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Mohnish Suri

Showing results (81-90 of 123) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyRhys Dore, Chu-Ting Chang, Amber Declève, et al.
Human Mutation|June 18, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrumVerena Matejas, Bernward Hinkes, Faisal Alkandari, et al.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
European Journal of Human Genetics : EJHG|March 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesityAnge-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, et al.
JAMA Dermatology|August 31, 2022
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 IndividualsF Buket Basmanav, Nicole Cesarato, Sheetal Kumar, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Pageof 13

Showing results (81-90 of 123) with videos related to

Sort By:
Pageof 13
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyRhys Dore, Chu-Ting Chang, Amber Declève, et al.
Human Mutation|June 18, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrumVerena Matejas, Bernward Hinkes, Faisal Alkandari, et al.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
European Journal of Human Genetics : EJHG|March 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesityAnge-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, et al.
JAMA Dermatology|August 31, 2022
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 IndividualsF Buket Basmanav, Nicole Cesarato, Sheetal Kumar, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Pageof 13