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Alhashem, Amal
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1

Prenatal Diagnosis of c.437–1G>A Mutation in the MAN2B1 Gen..:

AlAnzi, Talal ; Mohammed, Sarar ; AlHashem, Amal.
Cureus.  , 2024
Link: https://doi.org/10.7759/..
 
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2

Bi-allelic variants in HCRT cause autosomal recessive narco..:

Hakami, Wejdan ; Thabet, Farah ; Alhashem, Amal...
neurogenetics.  , 2024
Link: https://doi.org/10.1007/..
 
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3

A founder variant expands the phenotype of WNT7B‐related PD..:

AlAbdi, Lama ; Rahbeeni, Zuhair ; Maddirevula, Sateesh...
Clinical Genetics.  106 (2024)  1 - p. 66-71 , 2024
Link: https://doi.org/10.1111/..
 
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4

Integrin α3 mutation junctional epidermolysis bullosa prese..:

Alshihry, Hind ; AlGhamdy, Shahad D. ; Alhashem, Amal.
JAAD Case Reports.  43 (2024)  - p. 76-79 , 2024
Link: https://doi.org/10.1016/..
 
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5

Variable phenotype of a null PPP1R13L allele in children wi..:

Tulbah, Sahar ; Alruwaili, Nadiah ; Alhashem, Amal...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 59-63 , 2023
Link: https://doi.org/10.1002/..
 
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6

Novel TLR7 hemizygous variant in post-COVID-19 neurological..:

Noor Eddin, Ahmed ; Al-Rimawi, Mohammed ; Peer-Zada, Feham..
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and ..:

Westenberger, Ana ; Ruiz‐Herrera, Adriana ; Bozdoğan, Sevcan...
Movement Disorders.  38 (2023)  3 - p. 502-504 , 2023
Link: https://doi.org/10.1002/..
 
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8

Diagnostic implications of pitfalls in causal variant ident..:

AlAbdi, Lama ; Maddirevula, Sateesh ; Shamseldin, Hanan E....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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9

Beyond the exome: utility of long-read whole genome sequenc..:

AlAbdi, Lama ; Shamseldin, Hanan E. ; Khouj, Ebtissal...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

SAT226 A Case Of Congenital Hypopituitarasim Has The Geneti..:

Aljasser, Abdullah Abdulruhman ; Alhashem, Amal
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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11

Bi-allelic loss-of-function variants in PPFIBP1 cause a neu..:

Rosenhahn, Erik ; O'Brien, Thomas J. ; Zaki, Maha S....
The American Journal of Human Genetics.  109 (2022)  8 - p. 1421-1435 , 2022
Link: https://doi.org/10.1016/..
 
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12

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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13

Further clinical and genetic evidence of ASC-1 complex dysf..:

Marais, Anett ; Bertoli-Avella, Aida M. ; Beetz, Christian...
European Journal of Medical Genetics.  65 (2022)  8 - p. 104537 , 2022
Link: https://doi.org/10.1016/..
 
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14

Further delineation of GEMIN4 related neurodevelopmental di..:

Altassan, Ruqaiah ; Qudair, Ahmad ; Alokaili, Riyadh...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2932-2940 , 2022
Link: https://doi.org/10.1002/..
 
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15

CLEC16A interacts with retromer and TRIM27, and its loss im..:

Smits, Daphne J. ; Dekker, Jordy ; Schot, Rachel...
Human Genetics.  142 (2022)  3 - p. 379-397 , 2022
Link: https://doi.org/10.1007/..
 
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