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Mohnish Suri

Showing results (71-80 of 123) with videos related to

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Annals of Clinical and Translational Neurology|June 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, et al.
Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
Journal of Medical Genetics|October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disabilityMark J Hamilton, Richard C Caswell, Natalie Canham, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Cancer Medicine|June 2, 2023
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international expertsRenata Neves, Blanca De Dios Perez, Rafal Panek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
European Journal of Human Genetics : EJHG|March 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature reviewMilou G P Kennis, Dmitrijs Rots, Arjan Bouman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Pageof 13

Showing results (71-80 of 123) with videos related to

Sort By:
Pageof 13
Annals of Clinical and Translational Neurology|June 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, et al.
Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
Journal of Medical Genetics|October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disabilityMark J Hamilton, Richard C Caswell, Natalie Canham, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Cancer Medicine|June 2, 2023
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international expertsRenata Neves, Blanca De Dios Perez, Rafal Panek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
European Journal of Human Genetics : EJHG|March 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature reviewMilou G P Kennis, Dmitrijs Rots, Arjan Bouman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Pageof 13