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10 research outputs found
A review and analysis of the clinical literature on Charcot–Marie–Tooth disease caused by mutations in neurofilament protein L
Author
Davis C. J.
Dejerine J.
+5Â more
Mallik A.
Online Mendelian Inheritance in Man OMIM®
Pease W. S.
Shaw G.
Werheid F.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
PKU and COVID19: How the pandemic changed metabolic control
Author
Beazer
Borghi
+12Â more
Cazzorla
Crone
Golinelli
Jurecki
Kadir
Li
MacDonald
OMIM® and Online Mendelian Inheritance in Man
Seymour
Van Wegberg
Walter
Walter
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Three cases of brachydactyly type E from two commingled tombs at the Late Intermediate period - Late Horizon site of Marcajirca, Ancash, Peru
Author
Alt
Anderson
+54Â more
Archibald
Arslan
Baca
Barnes
Barnes
Bartolomei
Bell
Benham
Bosch
Brailsford
Buikstra
Burnett
Case
Case
Case
Cybulski
Farabee
Fitch
Garn
Genetic and Rare Diseases Information Center (GARD)
Genetic and Rare Diseases Information Center (GARD)
Genetic and Rare Diseases Information Center (GARD)
Genetic and Rare Diseases Information Center (GARD)
Genetic and Rare Diseases Information Center (GARD)
Genetic and Rare Diseases Information Center (GARD)
Giuffra
Greenfield
Harris
Holt
Ibarra Asencios
Johnson
Kozieradzka-Ogunmakin
Laurencikas
Loveland
Mah
Merbs
Munuera MartĂnez
Online Mendelian Inheritance in Man OMIM®
Online Mendelian Inheritance in Man OMIM®
Online Mendelian Inheritance in Man OMIM®
Online Mendelian Inheritance in Man OMIM®
Pareda
Pokotylo
Poznanski
Poznanski
Reed
Schimizzi
Stojanowski
Suresh
Temtamy
Temtamy
Titelbaum
Urano
Velasco
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
The simian crease: Relationship to various genetic disorders
Author
Ahmed I
Alter M
+9Â more
Bali R
Davies PA
Kamali M
Lichtenstein J
Online Mendelian Inheritance in Man OMIM®
Phadke S
Pitt D
Sarfraz N
Sunilkumar M
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
Author
Allen
Apacik
+21Â more
Berube
Blanco
Chudley
Dibbens
Ensembl database
Gabbett
Hou
Lal
Latt
Lugtenberg
Martinez
Novartis®
Online Mendelian Inheritance In Man (OMIM)
Schwartz
Shapira
Sismani
Thode
UCSC genome browser
Vasquez
Wheal
Yokoyama
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Arthrogryposis and fetal hypomobility syndrome
Author
Attali
Bamshad
+45Â more
Bamshad
Banker
Baynam
Beals
Bevan
Burglen
Cox
Darin
Goldberg
Gordon
Hageman
Hall
Hall
Hall
Hall
Hall
Hall
Hall
Hall
Hall
Hammond
Herva
Herva
Kang
Laing
Mennen
Morgan
Mäkelä-Bengs
Narkis
Ochi
Online Mendelian Inheritance in Man® – OMIM®
Pakkasjarvi
Pena
Quinn
Ravenscroft
Ravenscroft
Reid
Senocak
Smigiel
Swinyard
Swinyard
Van den Berg-Vos
Vogt
Vuopala
Witters
Publication venue
'Elsevier BV'
Publication date
01/01/2013
Field of study
No full text
Crossref
The Alzheimer’s comorbidity phenome: mining from a large patient database and phenome-driven genetics prediction
Author
Agniel
Ahn
+44Â more
Alzheimer’s Association
Auber
Bagley
Bertram
Chen
Chen
Chen
Chen
Cheng
Davis
Duthie
Frank
Garcez
Godoy
Han
Hidalgo
Inestrosa
Jensen
Ko
Köhler
Liu
Maciejewski
McAdams
Mei
MetaMap
Obulesu
Online Mendelian Inheritance in Man OMIM®.
Opap
Park
Phelan
Roque
Rzhetsky
Siddiqui
Subramanian
Szklarczyk
Tramutola
van den Akker
Wang
Woo
Xu
Xu
Xu
Yu
Zhu
Publication venue
'Oxford University Press (OUP)'
Publication date
Field of study
No full text
Crossref
Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9
Author
Abdulla
Arbuse
+67Â more
Bar-On
Bennett
Boyd
Brunklaus
Cassidy
Chahine
Clinch
Comings
Copel
Cox
Cox
Davidson
Dearborn
Deborah V. Novack
Deborah Wenkert
Dib-Haji
Dib-Hajj
Dib-Hajj
Dimon
Dyck
Dyck
Erdil
Ervin
Faber
Fath
Ford
Grahame
Greider
Guidera
Gutman
Haaxma
Hakim
Hellstrom
Hirsch
Houlden
Huang
Huang
Ingwersen
Jones
Karen L. Clements
Kelly
Landrieu
Leipold
Levinson
Manfredi
McMurray
Meyer
Michael P. Whyte
Morris
Nagasako
Online Mendelian Inheritance in Man OMIM®
Rugiero
Sandroni
Sinacore
Sommer
Sternbach
Steven Mumm
Thrush
Verhoeven
Voraluck Phatarakijnirund
Waxman
Wenkert
William H. McAlister
Winkelmann
Woods
Zhang
Zhang
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK
Author
Albagha
Allen
+76Â more
Beyens
Blanco
Boyce
Boyce
Caffey
Campeau
Cassinelli
Chong
Chosich
Chung
Cristina Tau
Crockett
Crockett
Cundy
Daneshi
Daroszewska
Deborah V. Novack
Eduardo Santini-Araujo
Elahi
Enderle
Enderle
Eroglu
Esselman
Eyring
Frame
GarcĂa-Unzueta
Gillespie
Golob
Grasemann
Guerrini
Horwith
Hughes
Johnson-Pais
Karras
Ke
Kerr
Kong
Martin
Michael P. Whyte
Min
Mitsudo
Mumm
Nakatsuka
Naot
Olsen
Online Mendelian Inheritance in Man OMIM®
Otero
Ozono
Palenzuela
Pautke
Polyzos
Riches
Saki
Salmon
Schafer
Semler
Shroff
Sobacchi
Sobacchi
Sreejan
Steven Mumm
Tau
Temtamy
Téletchéa
Virginia Preliasco
Whyte
Whyte
Whyte
Whyte
Whyte
Whyte
Whyte
Whyte
William H. McAlister
Xiafang Zhang
Zhao
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Genome-wide methylation profiles in coronary artery ectasia
Author
Abi Khalil
Ackerman
+69Â more
Akdemir
Austin
Baccarelli
Bhagavatula
Bird
Boles
Breitling
Böttinger
Chen
Cheng-An Hsu
Chin-Yu Cheng
Cho-Kai Wu
De Visser
Du
Friso
Guay
Gunes
Hamann
Hamann
Huang da
Jen-Kuang Lee
Juang
Juang
Juang
Juey-Jen Hwang
Jyh-Ming Jimmy Juang
Kathiresan
Kobashi
Kruger
Kumar
Kuo-Liang Chien
Landis
Lee
Leong
Li
Li
Lian-Yu Lin
Liu
Lozano
Lu
Luo
LĂłpez-MejĂas
Manginas
Mavrogeni
McCarthy
Muscari
Nai-Chen Chuang
Nakao
Niessen
Online Mendelian Inheritance in Man OMIM®
Ozcan
Park
Reiner
Robertson
Rusanescu
Sharma
Sheedy
Shih-Fan Sherri Yeh
Stenvinkel
Subramanian
Suzuki
Szklarczyk
Tunick
Tzu-Pin Lu
Wang
Yang
Yen-Hong Lin
Yi-Chih Wang
Zawada
Publication venue
'Portland Press Ltd.'
Publication date
Field of study
No full text
Crossref