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Mohammad Hamid

Showing results (121-130 of 129) with videos related to

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Iranian Journal of Child Neurology|May 1, 2019
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic AnalysisSomayyeh Hashemian, Peyman Eshraghi, Nafi Dilaver, et al.
Experimental Dermatology|January 25, 2018
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosaHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.
Clinical Genetics|September 15, 2025
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest IranRezvan Zabihi, Mina Zamani, Niloofar Chamanrou, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 22, 2018
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiencyHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.
Immunology Letters|October 8, 2019
Genetic mutations and immunological features of severe combined immunodeficiency patients in IranZahra Shahbazi, Reza Yazdani, Sepideh Shahkarami, et al.
Human Genetics|February 2, 2026
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analysesSajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 24, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorderLettie E Rawlins, Reza Maroofian, Stuart J Cannon, et al.
Brain : a Journal of Neurology|July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Pageof 13

Showing results (121-130 of 129) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 129 results.
Iranian Journal of Child Neurology|May 1, 2019
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic AnalysisSomayyeh Hashemian, Peyman Eshraghi, Nafi Dilaver, et al.
Experimental Dermatology|January 25, 2018
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosaHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.
Clinical Genetics|September 15, 2025
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest IranRezvan Zabihi, Mina Zamani, Niloofar Chamanrou, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 22, 2018
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiencyHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.
Immunology Letters|October 8, 2019
Genetic mutations and immunological features of severe combined immunodeficiency patients in IranZahra Shahbazi, Reza Yazdani, Sepideh Shahkarami, et al.
Human Genetics|February 2, 2026
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analysesSajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 24, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorderLettie E Rawlins, Reza Maroofian, Stuart J Cannon, et al.
Brain : a Journal of Neurology|July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Pageof 13