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European Journal of Human Genetics : EJHG
|
October 2, 2019
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis
Talal Alanzi, Amal Alhashem, Khalid Dagriri, et al.
Saudi Medical Journal
|
June 11, 2020
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia
Amal Alhashem, Sarar Mohamed, Manal Abdelraheem, et al.
Brain & Development
|
November 17, 2020
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients
Sara Alharbi, Amal Alhashem, Fowzan Alkuraya, et al.
Pediatric Neurology
|
November 28, 2018
Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter
Ahmed BoAli, Kalthoum Tlili-Graiess, Amal AlHashem, et al.
Ophthalmic Genetics
|
June 29, 2025
Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for <i>GLIS3</i> deletion: case report and review of literature
Faeeqah Almhmoudi, Ghufran Abudawood, Arif O Khan, et al.
Frontiers in Neurology
|
December 14, 2023
Novel TLR7 hemizygous variant in post-COVID-19 neurological deterioration: a case report with literature review
Ahmed Noor Eddin, Mohammed Al-Rimawi, Feham Peer-Zada, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2015
Severe CNS involvement in WWOX mutations: Description of five new cases
Brahim Tabarki, Amal AlHashem, Saad AlShahwan, et al.
JAAD Case Reports
|
July 19, 2021
Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation
Lama Altawil, Hind Alshihry, Huda Alfaraidi, et al.
JIMD Reports
|
December 26, 2024
Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, et al.
Neurogenetics
|
January 19, 2024
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Wejdan Hakami, Farah Thabet, Amal Alhashem, et al.
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Search research articles
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Showing results (11-20 of 93) with videos related to
Sort By:
Page
of 10
European Journal of Human Genetics : EJHG
|
October 2, 2019
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis
Talal Alanzi, Amal Alhashem, Khalid Dagriri, et al.
Saudi Medical Journal
|
June 11, 2020
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia
Amal Alhashem, Sarar Mohamed, Manal Abdelraheem, et al.
Brain & Development
|
November 17, 2020
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients
Sara Alharbi, Amal Alhashem, Fowzan Alkuraya, et al.
Pediatric Neurology
|
November 28, 2018
Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter
Ahmed BoAli, Kalthoum Tlili-Graiess, Amal AlHashem, et al.
Ophthalmic Genetics
|
June 29, 2025
Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for <i>GLIS3</i> deletion: case report and review of literature
Faeeqah Almhmoudi, Ghufran Abudawood, Arif O Khan, et al.
Frontiers in Neurology
|
December 14, 2023
Novel TLR7 hemizygous variant in post-COVID-19 neurological deterioration: a case report with literature review
Ahmed Noor Eddin, Mohammed Al-Rimawi, Feham Peer-Zada, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2015
Severe CNS involvement in WWOX mutations: Description of five new cases
Brahim Tabarki, Amal AlHashem, Saad AlShahwan, et al.
JAAD Case Reports
|
July 19, 2021
Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation
Lama Altawil, Hind Alshihry, Huda Alfaraidi, et al.
JIMD Reports
|
December 26, 2024
Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, et al.
Neurogenetics
|
January 19, 2024
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Wejdan Hakami, Farah Thabet, Amal Alhashem, et al.
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of 10