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5 research outputs found
P699: Identification of a novel pathogenic variant in SERPINH1 associated with a presentation of osteogenesis imperfecta: Case study
Author
Amal Al Tenaiji
Anushree Dileep
+4 more
Azza Abd El Moneim Attia
Sana Islam
Shalini Behl
Val Zvereff
Publication venue
Elsevier
Publication date
01/01/2024
Field of study
No full text
Directory of Open Access Journals
Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing
Author
Alan K. Percy
Ariani
+28 more
Arlene M. Buller-Burckle
Beck
Bernacki
Chen
Chen
Christina Bridges
Evans
International Organization for Standardization
Jack C. Tarleton
Kankirawatana
Laurvick
Lisa V. Kalman
Lorraine H. Toji
Miller
Neul
Percy
Pinar Bayrak-Toydemir
Ramaswamy K. Iyer
Schwartzman
Shannon D. Barker
Sherri Bale
Soma Das
Swaroop Aradhya
Tao
Timothy D. Vo
Val V. Zvereff
Zehnbauer
Zoccoli
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Cystic fibrosis carrier screening in a North American population
Author
American College of Obstetricians and Gynecologists Committee on Genetics
B Mercier
+27 more
C Castellani
C Ferec
CM Strom
E Dequeker
EA Sugarman
EM Rohlfs
F Gilbert
GE Palomaki
GE Palomaki
Hawazin Faruki
I Schrijver
I Schrijver
J Clain
Kenneth J. Friedman
L Peleg
M Macek Jr
Marcia Edwards
MS Watson
OM Alper
PR Burgel
PR Sosnay
RA Heim
SM Moskowitz
Val V. Zvereff
WE Highsmith Jr
WW Grody
WW Grody
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: A clinical report
Author
A Aminoff
A Hamvas
+63 more
A Lehmann
A Lucassen
Adeline Vanderver
Amy Dexter
Amy Pizzino
AS Lebre
B Bakker
B Baskin
BD Gelb
C Caignec Le
C Haudry
C Rivolta
CA James
CE Cottrell
CL Turner
D Castiglia
DA Thompson
E Kay
EE Engel
EE Engel
F Quan
G Nimmo
GV Douglas
H Fassihi
H Fassihi
H Gumus
I Ceballos Picot
I Eriksson
I Giovannoni
Inder Gadi
JE Spence
Jessica E. King
JL Roberts
Johanna L. Schmidt
K Natsuga
K Sasaki
L Anesi
L Schejbel
LF Ross
LM Brzustowicz
M Castanet
M Castori
Meaghan Martin
Miriam Bloom
MJ Abramowicz
MP Lopez Garrido
P Benlian
P Boisseau
Q Ding
R Dufourcq Lagelouse
R Nussbaum
R Riveiro Alvarez
S Catarzi
S Kessler
S Leiken
T Stratchan
T Sulisalo
V Matejas
Val Zvereff
WS Benko
Y Miura
Y Niida
YH Huang
Publication venue
Health Sciences Research Commons
Publication date
01/10/2014
Field of study
No full text
Crossref
George Washington University: Health Sciences Research Commons (HSRC)
Maternal Uniparental Isodisomy Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report
Author
A Aminoff
A Hamvas
+63 more
A Lehmann
A Lucassen
Adeline Vanderver
Amy Dexter
Amy Pizzino
AS Lebre
B Bakker
B Baskin
BD Gelb
C Caignec Le
C Haudry
C Rivolta
CA James
CE Cottrell
CL Turner
D Castiglia
DA Thompson
E Kay
EE Engel
EE Engel
F Quan
G Nimmo
GV Douglas
H Fassihi
H Fassihi
H Gumus
I Ceballos Picot
I Eriksson
I Giovannoni
Inder Gadi
JE Spence
Jessica E. King
JL Roberts
Johanna L. Schmidt
K Natsuga
K Sasaki
L Anesi
L Schejbel
LF Ross
LM Brzustowicz
M Castanet
M Castori
Meaghan Martin
Miriam Bloom
MJ Abramowicz
MP Lopez Garrido
P Benlian
P Boisseau
Q Ding
R Dufourcq Lagelouse
R Nussbaum
R Riveiro Alvarez
S Catarzi
S Kessler
S Leiken
T Stratchan
T Sulisalo
V Matejas
Val Zvereff
WS Benko
Y Miura
Y Niida
YH Huang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref