E-LIB Suche - Ergebnisse für: Abdelhamed, Zakia

1

Long‐read sequencing and optical genome mapping identify ca..:

Sund, Kristen L. ; Liu, Jie ; Lee, Joyce...
American Journal of Medical Genetics Part A. , 2024

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

2

P602: Genetic modifiers as a basis for phenotypic variabili..:

Abdelhamed, Zakia ; Dykas, Daniel ; DiAdamo, Autumn...
Genetics in Medicine Open. 2 (2024) - p. 101508 , 2024

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

3

P352: The importance of genetics consultation prior to test..:

Xicola, Rosa Munoz ; Bistline, Emily ; Galloway, Maya...
Genetics in Medicine Open. 2 (2024) - p. 101246 , 2024

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

4

Correction: A novel hypomorphic allele of Spag17 causes pri..:

Abdelhamed, Zakia ; Lukacs, Marshall ; Cindric, Sandra...
Disease Models & Mechanisms. 14 (2021) 1 - p. , 2021

Link: https://doi.org/10.1242/..

5

A novel hypomorphic allele of Spag17 causes primary ciliary..:

Abdelhamed, Zakia ; Lukacs, Marshall ; Cindric, Sandra..
Disease Models & Mechanisms. 13 (2020) 10 - p. , 2020

Link: https://doi.org/10.1242/..

6

Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants:

Snedeker, John ; Gibbons, William J. ; Paulding, David F....
PLOS Genetics. 15 (2019) 11 - p. e1008467 , 2019

Link: https://doi.org/10.1371/..

7

Differential requirements of tubulin genes in mammalian for..:

Bittermann, Elizabeth ; Abdelhamed, Zakia ; Liegel, Ryan P....
PLOS Genetics. 15 (2019) 8 - p. e1008243 , 2019

Link: https://doi.org/10.1371/..

8

The ciliary Frizzled-like receptor Tmem67 regulates canonic..:

Abdelhamed, Zakia A. ; Abdelmottaleb, Dina I. ; El-Asrag, Mohammed E....
Scientific Reports. 9 (2019) 1 - p. , 2019

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

9

An siRNA-based functional genomics screen for the identific..:

UK10K Consortium ; Wheway, Gabrielle ; Schmidts, Miriam...
Nature Cell Biology. 17 (2015) 8 - p. 1074-1087 , 2015

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

10

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutatio..:

Logan, Clare V. ; Cossins, Judith ; Rodríguez Cruz, Pedro M....
The American Journal of Human Genetics. 97 (2015) 6 - p. 878-885 , 2015

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

11

Cerebellar Malformations in the Tmem67 Ciliopathy Mouse Mod..:

Abdelhamed, Zakia ; Toomes, Carmel ; Inglehearn, Chris.
The FASEB Journal. 29 (2015) S1 - p. , 2015

Link: https://doi.org/10.1096/..

12

The Meckel-Gruber syndrome protein TMEM67 controls basal bo..:

Abdelhamed, Zakia A. ; Natarajan, Subaashini ; Wheway, Gabrielle...
Disease Models & Mechanisms. 8 (2015) 6 - p. 527-541 , 2015

Link: https://doi.org/10.1242/..

13

Aberrant Wnt signalling and cellular over-proliferation in ..:

Wheway, Gabrielle ; Abdelhamed, Zakia ; Natarajan, Subaashini...
Developmental Biology. 377 (2013) 1 - p. 55-66 , 2013

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

14

Loss-of-function mutations in MICU1 cause a brain and muscl..:

UK10K Consortium ; Logan, Clare V ; Szabadkai, György...
Nature Genetics. 46 (2013) 2 - p. 188-193 , 2013

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

15

Variable expressivity of ciliopathy neurological phenotypes..:

Abdelhamed, Zakia A. ; Wheway, Gabrielle ; Szymanska, Katarzyna...
Human Molecular Genetics. 22 (2013) 7 - p. 1358-1372 , 2013

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