E-LIB Suche - Ergebnisse für: Fry, Andrew E.

1

PSMC5 insufficiency and P320R mutation impair proteasome fu..:

Yu, Zhong-Qiu ; Carmichael, Jenny ; Collins, Galen A...
Human Molecular Genetics. , 2024

Link: https://doi.org/10.1093/..

2

Clinical and functional consequences of GRIA variants in pa..:

XiangWei, Wenshu ; Perszyk, Riley E. ; Liu, Nana...
Cellular and Molecular Life Sciences. 80 (2023) 11 - p. , 2023

Link: https://doi.org/10.1007/..

3

Börjeson–Forssman–Lehmann syndrome: delineating the clinica..:

Jain, Vani ; Foo, Seow Hoong ; Chooi, Stephen...
European Journal of Human Genetics. 31 (2023) 12 - p. 1421-1429 , 2023

Link: https://doi.org/10.1038/..

4

The Phenotypic Continuum ofATP1A3-Related Disorders:

Vezyroglou, Aikaterini ; Akilapa, Rhoda ; Barwick, Katy...
Neurology. 99 (2022) 14 - p. , 2022

Link: https://doi.org/10.1212/..

5

Heterozygous variants in ZBTB7A cause a neurodevelopmental ..:

von der Lippe, Charlotte ; Tveten, Kristian ; Prescott, Trine E....
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 272-282 , 2021

Link: https://doi.org/10.1002/..

6

Further delineation of the clinical spectrum of White–Sutto..:

Murch, Oliver ; Jain, Vani ; Benneche, Andreas...
European Journal of Human Genetics. 30 (2021) 1 - p. 95-100 , 2021

Link: https://doi.org/10.1038/..

7

Using data from the 100,000 Genomes Project to resolve conf..:

Ragoussis, Vassilis ; Pagnamenta, Alistair T ; Haines, Rebecca L...
Journal of Medical Genetics. 59 (2021) 4 - p. 366-369 , 2021

Link: https://doi.org/10.1136/..

8

Clinical delineation, sex differences, and genotype–phenoty..:

Faundes, Víctor ; Goh, Stephanie ; Akilapa, Rhoda...
Genetics in Medicine. 23 (2021) 7 - p. 1202-1210 , 2021

Link: https://doi.org/10.1038/..

9

Impaired eIF5A function causes a Mendelian disorder that is..:

Faundes, Víctor ; Jennings, Martin D. ; Crilly, Siobhan...
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

10

Comprehensive study of 28 individuals with SIN3A-related di..:

Balasubramanian, Meena ; Dingemans, Alexander J. M. ; Albaba, Shadi...
European Journal of Human Genetics. 29 (2021) 4 - p. 625-636 , 2021

Link: https://doi.org/10.1038/..

11

International consensus recommendations on the diagnostic w..:

Oegema, Renske ; Barakat, Tahsin Stefan ; Wilke, Martina...
Nature Reviews Neurology. 16 (2020) 11 - p. 618-635 , 2020

Link: https://doi.org/10.1038/..

12

ZMYND11‐related syndromic intellectual disability: 16 patie..:

Yates, Thabo M. ; Drucker, Morgan ; Barnicoat, Angela...
Human Mutation. 41 (2020) 5 - p. 1042-1050 , 2020

Link: https://doi.org/10.1002/..

13

A new 1p36.13‐1p36.12 microdeletion syndrome characterized ..:

Aagaard Nolting, Line ; Brasch‐Andersen, Charlotte ; Cox, Helen...
Clinical Genetics. 97 (2020) 6 - p. 927-932 , 2020

Link: https://doi.org/10.1111/..

14

Clinical findings of 21 previously unreported probands with..:

Durkin, Anna ; Albaba, Shadi ; Fry, Andrew E....
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1637-1654 , 2020

Link: https://doi.org/10.1002/..

15

Focal segmental glomerulosclerosis and mild intellectual di..:

McClatchey, Martin A. ; du Toit, Zachary D. ; Vaughan, Rhys...
European Journal of Medical Genetics. 63 (2020) 9 - p. 103972 , 2020

Link: https://doi.org/10.1016/..