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Mohnish Suri

Showing results (51-60 of 123) with videos related to

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Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.
Journal of Medical Genetics|February 6, 2021
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutationVassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, et al.
American Journal of Medical Genetics. Part A|March 3, 2004
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patientsOuti Mäkitie, Geert R Mortier, Malwina Czarny-Ratajczak, et al.
Journal of Medical Genetics|December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorderReza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in <i>BMAL1</i> are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
Plos Genetics|November 13, 2012
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeTomoo Ogi, Sarah Walker, Tom Stiff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
Pageof 13

Showing results (51-60 of 123) with videos related to

Sort By:
Pageof 13
Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.
Journal of Medical Genetics|February 6, 2021
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutationVassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, et al.
American Journal of Medical Genetics. Part A|March 3, 2004
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patientsOuti Mäkitie, Geert R Mortier, Malwina Czarny-Ratajczak, et al.
Journal of Medical Genetics|December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorderReza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in <i>BMAL1</i> are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
Plos Genetics|November 13, 2012
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeTomoo Ogi, Sarah Walker, Tom Stiff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
Pageof 13