Showing results (21-30 of 242) with videos related to

Sort By:
Pageof 25
Journal of Human Genetics|February 10, 2017
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutationsMohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, et al.
Journal of Medical Genetics|December 23, 2025
Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patientsGhada M H Abdel-Salam, Mohamed S Abdel-Hamid, Sherif F Abdel-Ghafar, et al.
Clinical Genetics|January 7, 2025
Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome SequencingAhmed K Saad, Nagwa H Hassan, Hala N Soliman, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 30, 2019
Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian childrenSamira Ismail, Azza Abo Senna, Eman G Behiry, et al.
Science Translational Medicine|January 1, 2025
Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migrationIsaac Tang, Ashna Nisal, Alex Reed, et al.
American Journal of Medical Genetics. Part A|October 6, 2023
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndromeMahmoud Y Issa, Mona A Hafez, Samir M Mounir, et al.
Pediatric Neurology|February 3, 2026
Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian CohortAsmaa F Abdel Aleem, Nagia Fahmy, Maha S Zaki, et al.
Clinical Genetics|February 18, 2025
Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB-Related Neurodevelopmental DisordersMohamed S Abdel-Hamid, Sherif F Abdel-Ghafar, Inas S M Sayed, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutationsMohamed S Abdel-Hamid, Manal F Ismail, Hebatallh A Darwish, et al.
European Journal of Medical Genetics|October 26, 2010
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosumAlice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, et al.
Pageof 25