10 research outputs found
Mechanisms of action of systemic antibiotics used in periodontal treatment and mechanisms of bacterial resistance to these drugs
- Author
- Abraham LJ
- Abu-Fanas SH
- Abu-Fanas SH
- Andrés MT
- Ardila CM
- Armitage GC
- Arpin C
- Barza M
- Bernardo WL
- Bhatia N
- Bismuth R
- Blandizzi C
- Burdett V
- Burdett V
- Butaye P
- Carvalho LH
- Carvallho LH
- Chambers HF
- Chan Y
- Charpentier E
- Ciancio SG
- Cionca N
- Cionca N
- Cohen SP
- Cohen SP
- Collins JG
- Connel SR
- Davies J
- Day LE
- De Barbeyrac B
- De Rossi E
- Deas ED
- Doyle D
- Dublanchet A
- Falagas ME
- Feres M
- Fiehn NE
- Freeman CD
- Geisla Mary Silva Soares
- Goh KL
- Golub LM
- Goodson JM
- Goodson JM
- Goodwin CS
- Graham DY
- Guerrero A
- Guiney DG
- Guiney Jr DG
- Hackbarth CJ
- Haffajee AD
- Haffajee AD
- Haffajee AD
- Haffajee AD
- Haggoud A
- Hakenbeck R
- Handal T
- Hansen LM
- Herrera D
- Hirschl AM
- Hoepelman IM
- Horn R
- Hoshino T
- Ince D
- Ingham HR
- Ioannidou S
- Joesoef MR
- Jorgensen JH
- Kaatz GW
- Kapusnik-Uner JE
- Kim SM
- Kinder SA
- King A
- Kornman KS
- Laatsch LJ
- Lacroix JM
- Lacroix JM
- Larsen T
- Larsen T
- LeBlanc DJ
- Leclercq R
- Levy SB
- Li XZ
- Listgarten MA
- Loberto JCS
- Loesche WJ
- Luciene Cristina Figueiredo
- Lugo-Miro VI
- Maestre JR
- Magda Feres
- Magnusson I
- Magnusson I
- Mandell GL
- Marcelo Faveri
- Maxwell IH
- McMurry L
- McMurry LM
- Mestnik MJ
- Moore RA
- MĂ©graud F
- MĂĽller HP
- MĂĽller M
- Nakae T
- Nesin M
- Nikaido H
- Nikaido H
- Nikolich MP
- Nyfors S
- Olsvik B
- Olsvik B
- Olsvik B
- Olsvik B
- Osvik B
- Pato ML
- Poliana Mendes Duarte
- Poulsen SM
- Quon DV
- Ramos JL
- Rams TE
- Ready D
- Ready D
- Reysset G
- Roberts MC
- Roberts MC
- Roberts MC
- Roberts MC
- Roberts MC
- Roberts MC
- Roberts MC
- Robicsek A
- Rodrigues RM
- Salyers AA
- Sanai Y
- Sanders CC
- Scher KS
- Schnappinger D
- Sedgley CM
- Sedlacek MJ
- Sefton AM
- Seymour RA
- Sharma R
- Sheila Cavalca Cortelli
- Shinn D
- Shoemaker NB
- Silva MP
- Socransky SS
- Soll AH
- Speer BS
- Spratt BG
- Spratt BG
- Spratt BG
- Stabholz A
- Stupnicki T
- Suarez G
- Sutter VL
- Sutter VL
- Sweeney LC
- SĂłki J
- Tally FP
- Tauch A
- Trinh S
- Trinh S
- Vachon V
- Van Winkelhoff AJ
- Van Winkelhoff AJ
- Van Winkelhoff AJ
- Van Winkelhoff AJ
- Van Winkelhoff AJ
- Villideu A
- Walker CB
- Walker CB
- Walker CB
- Walsh C
- Whittle G
- Williams BL
- Yocum RR
- Yonath A
- Zihao R
- Zuckerman JM
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Recommended from our members
Free sialic acid storage disorder: Progress and promise
- Author
- Adams David R
- Adams David R
- Dobrenis Kostantin
- Foglio Jessica
- Gahl William A
- Gahl William A
- Gasnier Bruno
- Hackbarth Mary
- Hackbarth Mary E
- Huizing Marjan
- Huizing Marjan
- Lek Monkol
- Malicdan May CV
- Paavola Liisa E
- Patterson Marc C
- Patterson Marc C
- Reimer Richard
- Walkley Steven U
- Walkley Steven U
- Wang Raymond Y
- Wasserstein Melissa
- Wasserstein Melissa
- Zoncu Roberto
- Publication venue
- eScholarship, University of California
- Publication date
- 01/06/2021
- Field of study
Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). SLC17A5 defects cause free sialic acid and some other acidic hexoses to accumulate in lysosomes, resulting in enlarged lysosomes in some cell types and 10-100-fold increased urinary excretion of free sialic acid. Clinical features of FSASD include coarse facial features, organomegaly, and progressive neurodegenerative symptoms with cognitive impairment, cerebellar ataxia and muscular hypotonia. Central hypomyelination with cerebellar atrophy and thinning of the corpus callosum are also prominent disease features. Around 200 FSASD cases are reported worldwide, with the clinical spectrum ranging from a severe infantile onset form, often lethal in early childhood, to a mild, less severe form with subjects living into adulthood, also called Salla disease. The pathobiology of FSASD remains poorly understood and FSASD is likely underdiagnosed. Known patients have experienced a diagnostic delay due to the rarity of the disorder, absence of routine urine sialic acid testing, and non-specific clinical symptoms, including developmental delay, ataxia and infantile hypomyelination. There is no approved therapy for FSASD. We initiated a multidisciplinary collaborative effort involving worldwide academic clinical and scientific FSASD experts, the National Institutes of Health (USA), and the FSASD patient advocacy group (Salla Treatment and Research [S.T.A.R.] Foundation) to overcome the scientific, clinical and financial challenges facing the development of new treatments for FSASD. We aim to collect data that incentivize industry to further develop, obtain approval for, and commercialize FSASD treatments. This review summarizes current aspects of FSASD diagnosis, prevalence, etiology, and disease models, as well as challenges on the path to therapeutic approaches for FSASD
The Pricing of Credit Default Swaps under a Markov-Modulated Merton’s Structural Model
- Author
- Acharya Viral V.
- American Academy of Actuaries
- Ang Andrew
- Ang Andrew
- Artzner Philippe
- Artzner Philippe
- Artzner Philippe
- Black Fischer
- Black Fischer
- Boyle Phelim P.
- British Bankers’ Association
- Buffington John
- BĂĽhlmann Hans
- BĂĽhlmann Hans
- Chacko George
- Davis Mark H. A.
- Delbaen Freddy
- Derivatives Working Party of the Faculty and Institute of Actuaries
- Duffie Darrell
- Duffie Darrell
- Elliott Robert J.
- Elliott Robert J.
- Elliott Robert J.
- Elliott Robert J.
- Esscher Fredrik
- Föllmer Hans
- Gerber Hans U.
- Gerber Hans U.
- Geske Robert
- Guo Xin
- Hackbarth Dirk
- Hardy Mary R.
- Hardy Mary R.
- Harrison J. Michael
- Harrison J. Michael
- Harrison J. Michael
- Jarrow Robert
- Lando David
- Lando David
- Leland Hayne E
- Leland Hayne E
- Leland Hayne E
- Leland Hayne E.
- Li David X
- Lo Andrew W.
- Longstaff Francis A.
- Madan Dilip B.
- Mcdonald Robert L.
- Merton Robert C
- Musiela Marek
- Ross Sheldon M.
- Schweizer Martin
- Tarashev Nikola A.
- Taylor Stephen J.
- Ueno Yoichi
- Wilmott Paul
- Zhou Chunsheng
- Zhou Chunsheng
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Female Board Leadership, Firm Performance, and Corporate Governance: Evidence from China
- Author
- Alberto Galasso
- Alice H Eagly
- Alice H Eagly
- Amy Dittmar
- Anil Shivdasani
- Annika E Sunden
- Antoinette Schoar
- Anup Agrawal
- Ben-David
- Benjamin Hermalin
- Bill Francis
- Binay K Adhikari
- Bing Zhu
- Brad M Barber
- Corinne Post
- Craig Crossland
- Cristi A Gleason
- Dale W Griffin
- Dan Givoly
- David Hirshleifer
- David Hirshleifer
- Dirk Hackbarth
- Don A Moore
- Douglas Cumming
- Efraim Benmelech
- Eric C Chang
- Eugene F Fama
- Eugene F Fama
- Ferdinand A Gul
- Firth
- Francesca Carter Mary Ellen
- Fuxiu Jiang
- Gary N Powell
- Geoffrey Tate
- Gongmeng Chen
- Graham Ben-David
- Greene William
- Heckman James
- Henrik Cronqvist
- Hirshleifer Daniel
- Huang
- J B Heaton
- Jeffrey A Smith
- Jeong Bon Gao Yanmin
- Jiatao Li
- Jie Cai
- Jigao Zhu
- Jivas Chakravarthy
- John E Core
- Jun-Koo Kang
- Jungmin Kim
- Karl-Adam Bonnier
- Kathryn L Dewenter
- Kee-Hong Bae
- Kenneth R Ahern
- Kent Daniel
- Lixiong Guo
- Mara Faccio
- Mar�a Triana
- Michael C Weisbach
- Michael C Withers
- Milton Harris
- Miriam Schwartz-Ziv
- Muriel Niederle
- Rachel Croson
- Randall Morck
- Ren�e B Adams
- Ren�e B Adams
- Ren�e B Adams
- Ronald Anderson
- R�diger Fahlenbrach
- Scott E Yonker
- Shalom H Schwartz
- Srinidhi Bin
- Suraj Srinivasan
- Ulrike Malmendier
- William H Greene
- William L Megginson
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
Pediatric continuous renal replacement therapy: have practice changes changed outcomes? A large single-center ten-year retrospective evaluation
- Author
- A Akcan Arikan
- A Deep
- A Kaddourah
- A Rana
- A Santhanakrishnan
- A Zarbock
- Alyssa A. Riley
- AT Cruz
- Ayse Akcan Arikan
- B Wierstra
- C Mammen
- C Ronco
- Carolyn Smith
- Charles G. Minard
- CS Wong
- D Askenazi
- D Bailey
- D Fiser
- Danielle Guffey
- DJ Askenazi
- DJ Askenazi
- E Boschee
- E Wuhl
- FX Flores
- GM Fleming
- Helen Currier
- ID Liu
- J Lopez-Herce
- JA Foland
- JC Fitzgerald
- JM Symons
- JS Baird
- K Schneider
- L de Galasso
- L Elbahlawan
- L Peruzzi
- LN Sanchez-Pinto
- LW Hayes
- M Pollack
- M Santiago
- M Santiago
- M Zappitell
- Mary Watson
- MG Coulthard
- MR Hanudel
- PD Brophy
- R Hackbarth
- RS Gillespie
- S Gaudry
- S Hui-Stickle
- S Rajesekaran
- SL Goldstein
- SL Goldstein
- SL Goldstein
- SL Goldstein
- SM Sutherland
- SM Sutherland
- SM Sutherland
- SM Sutherland
- T Ali
- TL McGregor
- V Modem
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The Houghton Road Site, the Agua Caliente Phase, and the Early Formative Period in the Tucson Basin
- Author
- Allen Wilma
- Anyon Roger
- Anyon Roger
- Bayham Frank E.
- Bemard-Shaw Mary
- Bemard-Shaw Mary
- Cable John S.
- Cable John S.
- Cable John S.
- Cairns Kelly
- Chapman Richard C.
- Ciolek-Torrello Richard S.
- Ciolek-Torrello Richard S.
- Cummings Linda Scott
- Czaplicki Jon S.
- Czaplicki Jon S.
- Czaplicki Jon S.
- Dean Jeffrey S.
- Di Peso Charles C.
- Di Peso Charles C.
- Doelle William H.
- Doyel David E.
- Doyel David E.
- Eddy Frank W.
- Eighmy Jeffrey
- Elson Mark D.
- Elson Mark D.
- Elson Mark D.
- Eppley Lisa G.
- Fish Suzanne K.
- Fitting James E.
- Gasser Robert E.
- Gish Jannifer W.
- Gladwin Harold S.
- Gladwin Harold S.
- Greenwald David H.
- Hackbarth Mark R.
- Halbirt Carl D.
- Halbirt Carl D.
- Halbirt Carl D.
- Halbirt Carl D.
- Haury Emil W.
- Haury Emil W.
- Haury Emil W.
- Heidke James
- Heidke James
- Henderson T. Kathleen
- Henderson T. Kathleen
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Bruce B.
- Huckell Lisa W.
- Huntington Frederick W.
- Kelly Isabel T.
- LeBlanc Steven A.
- LeBlanc Steven A.
- LeBlanc Steven A.
- Mabry Jonathan
- Mabry Jonathan
- Mabry Jonathan
- Mabry Jonathan
- Mabry Jonathan B.
- Martin Paul S.
- Miksicek Charles H.
- Miksicek Charles H.
- Montero Laurene G.
- Morris Earl H.
- Parry William J.
- Roth Barbara J.
- Roth Barbara J.
- Sayles E. B.
- Sayles E. B.
- Shaw Chester W.
- Shaw Chester W.
- Shaw Chester W.
- Slawson Laurie V.
- Stark Miriam T.
- Wheat Joe Ben
- Whittlesey Stephanie M.
- Whittlesey Stephanie M.
- Whittlesey Stephanie M.
- Wilcox David R.
- Wilcox David R.
- Wilcox David R.
- Wilson C. Dean
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
- Author
- Adam P. Liebendorder
- Adams
- Alan H. Beggs
- Alanna E. Koehler
- Alec A. Weech
- Alexa T. McCray
- Alexa T. McCray
- Alexandra J. McCarty
- Allyn McConkie-Rosell
- Alyssa A. Tran
- Amy K. Robertson
- Anastasia L. Wise
- Anastasia L. Wise
- Andrea L. Gropman
- Angela L. Jones
- Anna Bican
- Annika M. Dries
- Ariane G. Soldatos
- Ashok Balasubramanyam
- Barbara N. Pusey
- Bearn
- Beaulieu
- Bobbie-Jo M. Webb-Robertson
- Braden E. Boone
- Brenda Iglesias
- Brendan H. Lee
- Brett H. Graham
- Brownstein
- Buske
- C. Christopher Lau
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Carlos A. Bacino
- Carson R. Loomis
- Casey Martin
- Catherine A. Brownstein
- Catherine A. Groden
- Cecilia Esteves
- Childs
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Christopher J. Adams
- Colleen E. Wahl
- Collins
- Cynthia J. Tifft
- Cynthia J. Tifft
- Cynthia M. Cooper
- Daniel C. Dorset
- Daryl A. Scott
- Daryl M. Waggott
- David A. Sweetser
- David B. Goldstein
- David Bernick
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- David R. Adams
- Denise J. Levy
- Donna M. Brown
- Donna M. Krasnewich
- Donna M. Muzny
- Donna Novacic
- Edwin K. Silverman
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Krieg
- Ellen F. Macnamara
- Ellen M. Howerton
- Eric Vilain
- Esteban C. Dell’Angelica
- Euan A. Ashley
- Euan A. Ashley
- Faden
- Gahl
- Gahl
- Gahl
- Gary D. Clark
- Girdea
- Gretchen A. Golas
- Guoyun Yu
- Hane Lee
- Hayk Barseghyan
- Howard J. Jacob
- Hugo J. Bellen
- Ingrid A. Holm
- Isaac S. Kohane
- Isabel Hardee
- J. Carl Pallais
- J. Scott Newberry
- Janet S. Sinsheimer
- Jean M. Johnston
- Jean-Philippe F. Gourdine
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Kyle
- Jennifer E. Posey
- Jennifer L. Murphy
- Jill A. Rosenfeld
- Joan M. Stoler
- Joel B. Krier
- John A. Phillips
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- John J. Mulvihill
- Jonathan A. Bernstein
- Jonathan A. Bernstein
- Jordan S. Orange
- Joseph Loscalzo
- Joseph Loscalzo
- Joy D. Cogan
- Jozef Lazar
- Jyoti G. Dayal
- Kass
- Kate Frost
- Katherine E. Schaffer
- Katherine R. Chao
- Katrina M. Dipple
- Katrina M. Waters
- Kelly Schoch
- Kimberly A. Strong
- Kimberly Splinter
- Köhler
- Lance H. Rodan
- Laura A. Mamounas
- Laurel A. Donnell-Fink
- Lauren C. Briere
- Lea Latham
- Lindsay C. Burrage
- Lisa T. Emrick
- Loren D.M. Pena
- Lori H. Handley
- Lorraine Potocki
- Lynne A. Wolfe
- Mahim Jain
- Mariska Davids
- Mary E. Hackbarth
- Mary “Gracie” G. Gordon
- Mashid S. Azamian
- Matthew Brush
- Matthew Might
- Matthew R. Herzog
- Matthew T. Wheeler
- May Christine V. Malicdan
- Melissa Haendel
- Mercedes E. Alejandro
- Michael F. Wangler
- Michele E. Nehrebecky
- Might
- Mike Warburton
- Miller
- Miller
- Mitchell Goheen
- Molly C. Schroeder
- Monte Westerfield
- Mulvihill
- Naghmeh Dorrani
- Nathanial J. Tolman
- Neil A. Hanchard
- Ng
- Nicholas Stong
- Nicole M. Walley
- Paolo M. Moretti
- Patricia A. Ward
- Patricia A. Zornio
- Patrick Allard
- Patrick Allard
- Paul G. Fisher
- Paul Mazur
- Paul R. Lee
- Petrovski
- Philippakis
- Prashant Sharma
- Rachel B. Ramoni
- Rachel B. Ramoni
- Rachel Eastwood
- Rebecca C. Spillmann
- Rehman
- Rena A. Godfrey
- Richard A. Lewis
- Richard L. Maas
- Rios
- Rizwan Hamid
- Rizwan Hamid
- Robinson
- Robinson
- Sadat
- Sara P. Thomas
- Sarah E. Gould
- Sarah K. Nicholas
- Sarah Sadozai
- Seema R. Lalani
- Sharyn A. Lincoln
- Shawn E. Levy
- Shinya Yamamoto
- Shweta U. Dhar
- Singh
- Stan F. Nelson
- Taruscio
- Teri A. Manolio
- Thomas C. Markello
- Thomas O. Metz
- Trevor S. Frisby
- Tryka
- Tyra Estwick
- Valerie Gartner
- Valerie V. Maduro
- Vandana Shashi
- Vandana Shashi
- Walsh
- William A. Gahl
- William A. Gahl
- William J. Craigen
- Yaping Yang
- Yong-hui Jiang
- Yvonne L. Latour
- Zaheer M. Valivullah
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
- Author
- A. Bacino
- Adam P. Liebendorder
- Alan H. Beggs
- Alanna E. Koehler
- Alec A. Weech
- Alejandro E. Mercedes
- Alexa T. McCray
- Alexander Hoischen
- Alexandra J. McCarty
- Allyn McConkie-Rosell
- Anastasia L. Wise
- Andrea L. Gropman
- Angela L. Jones
- Anna C. Need
- Annika M. Dries
- Ariane G. Soldatos
- Ashok Balasubramanyam
- Azamian S. Mashid
- Bainbridge
- Balasubramani
- Barbara Burton
- Barbara N. Pusey
- Baskind
- Bohring
- Bolger
- Braden E. Boone
- Brenda Iglesias
- Brendan H. Lee
- Brett H. Graham
- Brunner
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Carson R. Loomis
- Casey Martin
- Catherine A. Groden
- Cecilia Esteves
- Chen
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Christine M. Shuss
- Christopher J. Adams
- Chyau Yueh C. Lau
- Colleen E. Wahl
- Constance T.R.M. Stumpel
- Cynthia J. Tifft
- Cynthia M. Cooper
- Dan C. Dorset
- Daryl A. Scott
- Daryl M. Waggott
- David A. Sweetser
- David B. Goldstein
- David B. Goldstein
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- de Ligt
- De Rubeis
- Denise J. Levy
- Donna M. Brown
- Donna M. Krasnewich
- Donna M. Muzny
- Donna Novacic
- Edwin K. Silverman
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Krieg
- Ellen F. Macnamara
- Eric Vilain
- Esteban C. Dell Angelica
- Euan A. Ashley
- Fanny KortĂĽm
- Farber
- Fisher
- Gary D. Clark
- Gretchen A. Golas
- Guoyun Yu
- Hane Lee
- Hayk Barseghyan
- Heather M. McLaughlin
- Hoischen
- Howard J. Jacob
- Hugo J. Bellen
- Ingrid A. Holm
- Isabel Hardee
- Issac S. Kohane
- Izawa
- J. Scott Newberry
- Jane S. Bellet
- Janet S. Sinsheimer
- Jean M. Johnston
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Posey
- Jennifer L. Murphy
- Jill A. Rosenfeld
- Joan M. Stoler
- Joe Lazar
- Joel B. Krier
- John A. Phillips
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- Jonathan A. Bernstein
- Jordan S. Orange
- Joseph Loscalzo
- Joy D. Cogan
- Juan C. Pallais
- Jyoti G. Dayal
- Karin Oberndorff
- Kate Frost
- Katherine E. Schaffer
- Katherine Kim
- Katherine R. Chao
- Katoh
- Katoh
- Katoh
- Katrina M. Dipple
- Kelly Schoch
- Kelly Schoch
- Khan
- Kim A. Strong
- Kimberly Splinter
- Lai
- Lance H. Rodan
- Laura A. Mamounas
- Laurel A. Donnell-Fink
- Lauren C. Briere
- Lea Latham
- Lek
- Lelieveld
- Lindsay C. Burrage
- Lisa T. Emrick
- Loren D.M. Pena
- Loren D.M. Pena
- Lori H. Handley
- Lorraine Potocki
- Lynne A. Wolfe
- MacArthur
- Magdalena Walkiewicz
- Mahim Jain
- Maja Hempel
- Malik Alawi
- Mariska Davids
- Martha Ann Keels
- Mary E. Hackbarth
- Mary G. Gordon
- Matt T. Wheeler
- Matthew Might
- Matthew R. Herzog
- May V. Malicdan
- Maysantoine El-Dairi
- Megan Butler
- Megan Cho
- Melanie J. Bonner
- Metzeler
- Michael F. Wangler
- Michael S. Freemark
- Michele E. Nehrebecky
- Mike Warburton
- Mitchell Goheen
- Mitja I. Kurki
- Molly C. Schroeder
- Monte Westerfield
- Naghmeh Dorrani
- Nathanial J. Tolman
- Neil A. Hanchard
- Nicholas Stong
- Nicholas Stong
- Nicole M. Walley
- Olli Pietilainen
- Outi Kuismin
- Palotie Aarno
- Paolo M. Moretti
- Park
- Park
- Patricia A. Ward
- Patricia A. Zornio
- Patrick Allard
- Paul G. Fisher
- Paul Mazur
- Paul R. Lee
- Peter G. Kranz
- Prashant Sharma
- Rachel B. Ramoni
- Ramocki
- Rebecca C. Spillmann
- Rena A. Godfrey
- Rene Santer
- Richard A. Lewis
- Richard L. Maas
- Richards
- Rizwan Hamid
- Ropers
- Russell
- Russell
- Sara P. Thomas
- Sarah K. Nicholas
- Sarah Sadozai
- Satu Korpi-Heikkilä
- Scott E. Hickey
- Seema R. Lalani
- Sharyn A. Lincoln
- Shawn E. Levy
- Shinya Yamamoto
- Shweta U. Dhar
- Slavé Petrovski
- Sobreira
- Stan F. Nelson
- Sylvia Klinkenberg
- Tanaka
- Teri A. Manolio
- Thomas C. Markello
- Thomas O. Metz
- Tran A. Alyssa
- Trevor S. Frisby
- Tyra Estwick
- Valerie Gartner
- Valerie V. Maduro
- Vandana Shashi
- Vandana Shashi
- Ware
- William A. Gahl
- William J. Craigen
- Yang
- Yaping Yang
- Yong-hui Jiang
- Yvonne L. Latour
- Zaheer M. Valivullah
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
- Author
- Acuna-Hidalgo
- Adam P. Liebendorder
- Alan H. Beggs
- Alanna E. Koehler
- Alec A. Weech
- Alexa T. McCray
- Alexandra J. McCarty
- Allen
- Allyn McConkie-Rosell
- Allyn McConkie-Rosell
- Alyssa A. Tran
- Amy K. Robertson
- Anastasia L. Wise
- Andrea L. Gropman
- Angela L. Jones
- Anna Bican
- Annika M. Dries
- Ariane G. Soldatos
- Asbjorg Stray-Pedersen
- Ashok Balasubramanyam
- Azamian S. Mashid
- Barbara N. Pusey
- Blanchard
- Bobbie-Jo M. Webb-Robertson
- Braden E. Boone
- Brendan H. Lee
- Brett H. Graham
- C. Christopher Lau
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Cara M. Skraban
- Carlos A. Bacino
- Carson R. Loomis
- Catherine A. Groden
- Cecilia Esteves
- Chong
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Christopher J. Adams
- Colleen E. Wahl
- Cooper
- Cynthia J. Tifft
- Cynthia M. Cooper
- Dan C. Dorset
- Daryl A. Scott
- Daryl M. Waggott
- David A. Sweetser
- David B. Goldstein
- David B. Goldstein
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- David R. Bearden
- de Ligt
- de Ligt
- Deeksha Bali
- Denise J. Levy
- Donna M. Brown
- Donna M. Krasnewich
- Donna M. Muzny
- Donna Novacic
- Edwin K. Silverman
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Krieg
- Ellen F. Macnamara
- Ellen M. Howerton
- Endele
- Eric Vilain
- Eric Vilain
- Eriskay Liston
- Esteban C. Dell’Angelica
- Euan A. Ashley
- Fabiola Quintero-Rivera
- Fernando Scaglia
- Francioli
- Francisca Millan
- Freed
- Gary D. Clark
- Gauthier
- Gilissen
- Gonzaga-Jauregui
- Gretchen A. Golas
- Guoyun Yu
- Hane Lee
- Hane Lee
- Hane Lee
- Hayk Barseghyan
- Hernández-Porras
- Howard J. Jacob
- Hugo J. Bellen
- Ingrid A. Holm
- Iossifov
- Iossifov
- Isaac S. Kohane
- Isabel Hardee
- Ishibashi
- Ishikawa
- J. Carl Pallais
- J. Scott Newberry
- James R. Lupski
- Janet S. Sinsheimer
- Jean M. Johnston
- Jean-Philippe F. Gourdine
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Kyle
- Jennifer E. Posey
- Jennifer E. Posey
- Jennifer L. Murphy
- Jennifer Tarpinian
- Jeremy N. Friedman
- Jill A. Rosenfeld
- Jill A. Rosenfeld
- Joan Jasien
- Joan M. Stoler
- Joel B. Krier
- John A. Phillips
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- Jonathan A. Bernstein
- Jordan S. Orange
- Jorge
- Joseph Loscalzo
- Joshua Deignan
- Joy D. Cogan
- Jozef Lazar
- Julian A. Martinez-Agosto
- Jyoti G. Dayal
- Kate Frost
- Katherine E. Schaffer
- Katherine R. Chao
- Katrina M. Dipple
- Katrina M. Waters
- Kelly Schoch
- Kelly Schoch
- Kimberly A. Strong
- Kimberly Splinter
- Kircher
- Korutla
- Korutla
- Korutla
- Krkljus
- Lance H. Rodan
- Laura A. Mamounas
- Laurel A. Donnell-Fink
- Lauren C. Briere
- Lea Latham
- Lee
- Lee
- Lek
- Lindsay C. Burrage
- Linyan Meng
- Lisa T. Emrick
- Loren D.M. Pena
- Lori H. Handley
- Lorraine Potocki
- Lynne A. Wolfe
- MacDonald
- Mahim Jain
- Marie McDonald
- Mariska Davids
- Mary E. Hackbarth
- Mary “Gracie” G. Gordon
- Matt T. Wheeler
- Matthew A. Deardorff
- Matthew Brush
- Matthew Might
- Matthew R. Herzog
- May Christine V. Malicdan
- Melissa Haendel
- Mercedes E. Alejandro
- Michael F. Wangler
- Michael F. Wangler
- Michael Freemark
- Michele E. Nehrebecky
- Mike Warburton
- Mitchell Goheen
- Mohamad A. Mikati
- Molly C. Schroeder
- Monte Westerfield
- Naghmeh Dorrani
- Naghmeh Dorrani
- Naghmeh Dorrani
- Nakayama
- Nakayama
- Nathanial J. Tolman
- Neil A. Hanchard
- Nicholas Stong
- Nicholas Stong
- Nicole M. Walley
- Nicole Walley
- Nimmakayalu
- Ohba
- Oyvind L. Busk
- Paolo M. Moretti
- Patricia A. Ward
- Patricia A. Zornio
- Patrick Allard
- Paul G. Fisher
- Paul Mazur
- Paul R. Lee
- Peter G. Kranz
- Petrovski
- Prashant Sharma
- Rachel B. Ramoni
- Rebecca C. Spillmann
- Rena A. Godfrey
- Richard A. Lewis
- Richard L. Maas
- Rivière
- Rizwan Hamid
- Robinson
- Ronald D. Cohn
- Rui Xiao
- Samuel P. Strom
- Sara P. Thomas
- Sarah E. Gould
- Sarah K. Nicholas
- Sarah Sadozai
- Scofield
- Seema R. Lalani
- Sharon Freedman
- Sharyn A. Lincoln
- Shashi
- Shawn E. Levy
- Sherri Bale
- Shih
- Shinya Yamamoto
- Shweta U. Dhar
- Sibel Kantarci
- Sobreira
- Stan F. Nelson
- Stanley F. Nelson
- Stanley F. Nelson
- Stephanie Burns Wechsler
- Stevenson
- Sujay Kansagra
- Sung-Hae Kang
- Sureni Mullegama
- Szabolcs Szelinger
- Szabolcs Szelinger
- Teri A. Manolio
- Thomas C. Markello
- Thomas O. Metz
- Trevor S. Frisby
- Tyra Estwick
- Valerie Gartner
- Valerie V. Maduro
- Vandana Shashi
- Vandana Shashi
- Veltman
- Wayne W. Grody
- White
- William A. Gahl
- William J. Craigen
- Yang
- Yap
- Yap
- Yaping Yang
- Yaping Yang
- Yeasmin
- Yong-hui Jiang
- Yvonne L. Latour
- Zaheer M. Valivullah
- Zeynep Coban Akdemir
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
- Author
- Aaron Quinlan
- Alan H. Beggs
- Alana Grajewski
- Alden Huang
- Alexa T. McCray
- Alica M. Goldman
- Alissa Becerril
- Allyn McConkie-Rosell
- Alyssa A. Tran
- Amanda J. Yoon
- Amy K. Robertson
- Anastasia L. Wise
- Ancans
- Andrea L. Gropman
- Angela L. Jones
- Anna Bican
- Archana N. Raja
- Ashley Andrews
- Ashok Balasubramanyam
- Austin Larson
- Avi Nath
- Barbara N. Pusey
- Behringer
- Beth A. Martin
- Bobbie-Jo M. Webb-Robertson
- Braden E. Boone
- Brendan C. Lanpher
- Brendan H. Lee
- Brent L. Fogel
- Bret L. Bostwick
- Byron Lam
- C. Christopher Lau
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Camilo Toro
- Carlos A. Bacino
- Carlos Ferreira
- Carsten Bonnenmann
- Catherine A. Groden
- Catherine H. Sillari
- Cecelia P. Tamburro
- Cecilia Esteves
- Chalhoub
- Chloe M. Reuter
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Chunli Zhao
- Cleiren
- Colleen E. McCormack
- Colleen E. Wahl
- Cynthia J. Tifft
- Cynthia J. Tifft
- Cynthia M. Cooper
- Dana Kiley
- Daniel C. Dorset
- Daniel Wegner
- Daryl A. Scott
- Dave Viskochil
- David A. Sweetser
- David B. Goldstein
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- David R. Adams
- David R. Murdock
- Deborah Barbouth
- Deborah Krakow
- Debra L. Day-Salvatore
- Devin Oglesbee
- Devon Bonner
- Devuyst
- Diane B. Zastrow
- Dong Chen
- Donna M. Brown
- Donna M. Krasnewich
- Donna Novacic
- Dustin Baldridge
- Edwin K. Silverman
- Elena-Raluca Nicoli
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Fieg
- Ellen F. Macnamara
- Elly Brokamp
- Emilie D. Douine
- Emily G. Kelley
- Esteban C. Dell'Angelica
- Euan A. Ashley
- Eva Baker
- Eva Morava-Kozicz
- F. Sessions Cole
- Fariha Jamal
- Frances High
- Fred Telischi
- Gabor Marth
- Gabriel F. Batzli
- Gahl
- Gahl
- Gary D. Clark
- Gene Elliott
- Genecee Renteria
- Gerard T. Berry
- Gill Bejerano
- Graves
- Guney Bademci
- Guoyun Yu
- Hamer
- Hane Lee
- Heather A. Colley
- Heidi Cope
- Heidi Dorward
- Holly K. Tabor
- Hsiao-Tuan Chao
- Hugo J. Bellen
- Ian R. Lanza
- Ingrid A. Holm
- Irman Forghani
- Isaac S. Kohane
- J. Carl Pallais
- J. Scott Newberry
- Jacinda B. Sampson
- Jacob McCauley
- James P. Orengo
- Janet S. Sinsheimer
- Jason Hom
- Jean M. Johnston
- Jean-Philippe F. Gourdine
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Kyle
- Jennifer E. Posey
- Jennifer Wambach
- Jentsch
- Jentsch
- Jeremy D. Woods
- Jijun Wan
- Jill A. Rosenfeld
- Jim Bale
- Jimann Shin
- Joan M. Stoler
- Joel B. Krier
- John A. Phillips
- John Bohnsack
- John Carey
- John Douglas Burke
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- John Yang
- Jonathan A. Bernstein
- Joseph A. Mindell
- Joseph Loscalzo
- Joy D. Cogan
- Jozef Lazar
- Judy Schaechter
- Julian A. MartĂnez-Agosto
- Justin Alvey
- Jyoti G. Dayal
- Kasper
- Kathleen Shields
- Kathy Sisco
- Katrina M. Waters
- Kelly Schoch
- Kevin S. Smith
- Kieferle
- Kimberly LeBlanc
- Kornak
- Kuronita
- Lance H. Rodan
- Lange
- Laura A. Mamounas
- Laura Duncan
- Laura Pace
- Laure Fresard
- Laurel A. Cobban
- Lauren C. Briere
- Lee-kai Wang
- Lefkothea Karaviti
- Leisle
- Liliana Fernandez
- Lilianna Solnica-Krezel
- Liman
- Lindsay C. Burrage
- Lisa J. Garrett
- Lisa Shakachite
- Lisa T. Emrick
- Lorenzo Botto
- Lorraine Potocki
- Lu
- Lynette Rives
- Lynne A. Wolfe
- Mahshid S. Azamian
- Majumdar
- Malicdan
- Manish J. Butte
- Maria T. Acosta
- Marie Morimoto
- Mario Saporta
- Mariska Davids
- Mariska Davids
- Marta M. Majcherska
- Martin G. Martin
- Mary Hackbarth
- Mary Koziura
- Mary R. Weston
- Matt Velinder
- Matthew Brush
- Matthew Might
- Matthew T. Wheeler
- Maura Ruzhnikov
- May Christine V. Malicdan
- May Christine V. Malicdan
- Melissa Haendel
- Melissa Walker
- Mercedes E. Alejandro
- Michael F. Wangler
- Mindell
- Mohammad-Panah
- Monte Westerfield
- Moreno-Mateos
- Mustafa Tekin
- Mylinh Vu
- Naghmeh Dorrani
- Neil A. Hanchard
- Neil H. Parker
- Nicholas Stong
- Nichole Hayes
- Nicola Longo
- Nicole M. Walley
- Olveen Carrasquillo
- Pankaj Agrawal
- Paolo M. Moretti
- Patricia A. Ward
- Patricia M. Zerfas
- Patrick Allard
- Paul G. Fisher
- Pengfei Liu
- Peter R. Baker
- Pinar Bayrak-Toydemir
- Poët
- Prashant Sharma
- Precilla D'Souza
- Queenie K.-G. Tan
- Ralph Sacco
- Rebecca C. Spillmann
- Rebecca Signer
- Rena A. Godfrey
- Richard A. Lewis
- Richard L. Maas
- Rizwan Hamid
- Robb K. Rowley
- Rong Mao
- Ronit Marom
- Rosario Isasi
- Roy Levitt
- Sanchez
- Sandra K. Loo
- Sarah K. Nicholas
- Seema R. Lalani
- Sharyn A. Lincoln
- Shawn E. Levy
- Shinya Yamamoto
- Shirley Sutton
- Shruti Marwaha
- Shweta U. Dhar
- Stan F. Nelson
- Steinberg
- Steinmeyer
- Stephan Zuchner
- Stephanie Bivona
- Stephen Pak
- Stobrawa
- Surendra Dasari
- Susan Korrick
- Susan L. Samson
- Ta Chen Peter Chang
- Teri A. Manolio
- Terra R. Coakley
- Thiemann
- Thomas C. Markello
- Thomas C. Markello
- Thomas May
- Thomas O. Metz
- Tiina K. Urv
- Tim Wood
- Timothy Schedl
- Tiphanie P. Vogel
- Tycko
- Tyra Estwick
- Uchida
- Valerie V. Maduro
- Vandana Shashi
- Vilboux
- Wadih M. Zein
- Wei Zheng
- Weinert
- Willa Thorson
- William A. Gahl
- William A. Gahl
- William J. Craigen
- Xiong
- Xue Zhong Liu
- Yan Huang
- Yong Huang
- Yong-hui Jiang
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study