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Brain & Development
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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.
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.
Pediatric Neurology
|
April 29, 2017
Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement
Alaa Eskandrani, Amal AlHashem, El-Sayed Ali, et al.
Human Genetics
|
November 9, 2021
Mitochondrial "dysmorphology" in variant classification
Hanan E Shamseldin, Amal Alhashem, Brahim Tabarki, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
September 20, 2024
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy
Enam Danish, Amal Alhashem, Nada Naaman, et al.
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Search research articles
Search
Showing results (11-20 of 86) with videos related to
Sort By:
Page
of 9
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.
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.
Pediatric Neurology
|
April 29, 2017
Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement
Alaa Eskandrani, Amal AlHashem, El-Sayed Ali, et al.
Human Genetics
|
November 9, 2021
Mitochondrial "dysmorphology" in variant classification
Hanan E Shamseldin, Amal Alhashem, Brahim Tabarki, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
September 20, 2024
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy
Enam Danish, Amal Alhashem, Nada Naaman, et al.
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of 9