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Salih, Mustafa A.
1233  Ergebnisse:
englisch X
Personensuche X
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1

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/..
 
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2

A novel missense variant in the ATPase domain of ATP8A2 and..:

Flannery, Kyle P. ; Safwat, Sylvia ; Matsell, Eli...
Neurogenetics.  , 2024
Link: https://doi.org/10.1007/..
 
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3

Environmental pollutants particulate matter (PM2.5, PM10), ..:

Meo, Sultan Ayoub ; Salih, Mustafa A ; Alkhalifah, Joud Mohammed..
Journal of King Saud University - Science.  36 (2024)  7 - p. 103280 , 2024
Link: https://doi.org/10.1016/..
 
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4

Genotype-phenotype correlations in RHOBTB2-associated neuro..:

Langhammer, Franziska ; Maroofian, Reza ; Badar, Rueda...
Genetics in Medicine.  25 (2023)  8 - p. 100885 , 2023
Link: https://doi.org/10.1016/..
 
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5

The Meryon Lecture at the 24th annual meeting of the Meryon..:

Salih, Mustafa A.
Neuromuscular Disorders.  33 (2023)  10 - p. 792-799 , 2023
Link: https://doi.org/10.1016/..
 
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6

Clinical phenotyping and genetic diagnosis of a large cohor..:

Yahia, Ashraf ; Hamed, Ahlam A. A. ; Mohamed, Inaam N....
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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7

Genetic diagnosis in Sudanese and Tunisian families with sy..:

Yahia, Ashraf ; Ayed, Ikhlas Ben ; Hamed, Ahlam A....
Annals of Human Genetics.  86 (2022)  4 - p. 181-194 , 2022
Link: https://doi.org/10.1111/..
 
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8

Delineation of the clinical profile of CNOT2 haploinsuffici..:

Niceta, Marcello ; Pizzi, Simone ; Inzana, Francesca...
Clinical Genetics.  103 (2022)  2 - p. 156-166 , 2022
Link: https://doi.org/10.1111/..
 
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9

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine.  24 (2022)  4 - p. 966 , 2022
Link: https://doi.org/10.1016/..
 
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10

Clinical, genetic, and functional characterization of the g..:

Aboheimed, Ghada I. ; AlRasheed, Maha M. ; Almudimeegh, Sultan...
Journal of Biological Chemistry.  298 (2022)  7 - p. 102018 , 2022
Link: https://doi.org/10.1016/..
 
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11

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/..
 
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12

A heterozygous mutation in the CCDC88C gene likely causes e..:

Yahia, Ashraf ; Chen, Zhefan Stephen ; Ahmed, Ammar E....
BMC Neurology.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Neurodevelopmental and epilepsy outcomes of patients with i..:

Bashiri, Fahad A. ; Al-Sehemi, Matar A. ; Hamad, Muddathir H....
Neurosciences.  26 (2021)  1 - p. 21-25 , 2021
Link: https://doi.org/10.17712..
 
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14

The clinical, histologic, and genotypic spectrum ofSEPN1-re..:

Villar-Quiles, Rocio N. ; von der Hagen, Maja ; Métay, Corinne...
Neurology.  95 (2020)  11 - p. , 2020
Link: https://doi.org/10.1212/..
 
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15

Ancient founder mutation in RUBCN: a second unrelated famil..:

Seidahmed, Mohammed Z. ; Hamad, Muddathir H. ; AlBakheet, Albandary...
BMC Neurology.  20 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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