E-LIB Suche - Ergebnisse für: Babai, Arwa

1

Orofacial Clefts: Genetics of Cleft Lip and Palate:

Babai, Arwa ; Irving, Melita
Genes. 14 (2023) 8 - p. 1603 , 2023

Link: https://doi.org/10.3390/..

2

Case Report: A New Family With Pontocerebellar Hypoplasia 1..:

Amin, Mutaz ; Vignal, Cedric ; Hamed, Ahlam A. A....
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

3

A novel homozygous mutation in TRAPPC9 gene causing autosom..:

Amin, Mutaz ; Vignal, Cedric ; Eltaraifee, Esraa...
BMC Medical Genomics. 15 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

4

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena E. O. ; Valter, Remi...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

5

Novel variants causing megalencephalic leukodystrophy in Su..:

Amin, Mutaz ; Vignal, Cedric ; Hamed, Ahlam A. A....
Journal of Human Genetics. 67 (2021) 3 - p. 127-132 , 2021

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

6

Intra-familial phenotypic heterogeneity in a Sudanese famil..:

Yahia, Ashraf ; Elsayed, Liena ; Babai, Arwa...
BMC Neurology. 18 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

7

Bi-allelic PRRT2 variants may predispose to Self-limited Fa..:

Koko, Mahmoud ; Elseed, Maha A. ; Mohammed, Inaam N....
European Journal of Human Genetics. , 2024

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

8

An identical‐by‐descent novel splice‐donor variant inPRUNE1..:

Koko, Mahmoud ; Yahia, Ashraf ; Elsayed, Liena E....
Annals of Human Genetics. 85 (2021) 5 - p. 186-195 , 2021

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

9

Hereditary spastic paraplegias: identification of a novel S..:

Elsayed, Liena E O ; Mohammed, Inaam N ; Hamed, Ahlam A A...
European Journal of Human Genetics. 25 (2016) 1 - p. 100-110 , 2016

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

10

Case Report: A New Family With Pontocerebellar Hypoplasia 1..:

Amin, Mutaz ; Vignal, Cedric ; Hamed, Ahlam A. A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201487/. , 2022

Link: http://www.ncbi.nlm.nih...

11

A novel homozygous mutation in TRAPPC9 gene causing autosom..:

Amin, Mutaz ; Vignal, Cedric ; Eltaraifee, Esraa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644490/. , 2022

Link: http://www.ncbi.nlm.nih...

12

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena ; Valter, Remi...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.720201. , 2021

Link: https://hal.sorbonne-uni..

13

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena, E O ; Valter, Remi...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.720201. , 2021

Link: https://hal.sorbonne-uni..

14

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena, E O ; Valter, Remi...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.720201. , 2021

Link: https://hal.sorbonne-uni..

15

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena E. O ; Valter, Remi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417901/. , 2021

Link: http://www.ncbi.nlm.nih...