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American Journal of Human Genetics
|
June 2, 2021
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
Julia Wallmeier, Diana Bracht, Hessa S Alsaif, et al.
Molecular Genetics and Metabolism
|
September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mohammed Almannai, Julia Wang, Hongzheng Dai, et al.
Pediatric Neurology
|
April 23, 2024
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
Mohammed M Saleh, Abdulrahim M Hamhom, Ali Al-Otaibi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Human Mutation
|
December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
Ayman W El-Hattab, Julia Wang, Hongzheng Dai, et al.
Brain : a Journal of Neurology
|
January 2, 2026
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
Johanna R Roller, Ashraf Yahia, Giovanni Stevanin, et al.
Annals of Clinical and Translational Neurology
|
April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Dana Marafi, Tadahiro Mitani, Sedat Isikay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Essa Alharby, Eissa A Faqeih, Mohammed Saleh, et al.
Clinical Genetics
|
February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder
Mohammed Almannai, Dana Marafi, Maha S Zaki, et al.
Clinical Genetics
|
March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
Mohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
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Search research articles
Search
Showing results (41-50 of 56) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
June 2, 2021
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
Julia Wallmeier, Diana Bracht, Hessa S Alsaif, et al.
Molecular Genetics and Metabolism
|
September 5, 2018
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mohammed Almannai, Julia Wang, Hongzheng Dai, et al.
Pediatric Neurology
|
April 23, 2024
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
Mohammed M Saleh, Abdulrahim M Hamhom, Ali Al-Otaibi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Human Mutation
|
December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
Ayman W El-Hattab, Julia Wang, Hongzheng Dai, et al.
Brain : a Journal of Neurology
|
January 2, 2026
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
Johanna R Roller, Ashraf Yahia, Giovanni Stevanin, et al.
Annals of Clinical and Translational Neurology
|
April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Dana Marafi, Tadahiro Mitani, Sedat Isikay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Essa Alharby, Eissa A Faqeih, Mohammed Saleh, et al.
Clinical Genetics
|
February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder
Mohammed Almannai, Dana Marafi, Maha S Zaki, et al.
Clinical Genetics
|
March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
Mohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
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of 6