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Kate Chandler

Showing results (31-40 of 49) with videos related to

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American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, et al.
American Journal of Human Genetics|May 6, 2003
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportJuha Kolehmainen, Graeme C M Black, Anne Saarinen, et al.
American Journal of Human Genetics|July 9, 2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson, Philip G Murray, James O'Sullivan, et al.
Familial Cancer|July 26, 2012
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminomaStephanie Smetsers, Joanne Muter, Claire Bristow, et al.
American Journal of Medical Genetics. Part A|February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndromeSara Griffiths, Chey Loveday, Anna Zachariou, et al.
Osteoarthritis and Cartilage|February 6, 2026
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathwaySteven Woods, Nicola Bates, Stuart Cain, et al.
American Journal of Human Genetics|May 14, 2004
Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|June 25, 2021
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experienceLeslie P Molina-Ramírez, Emma Mm Burkitt-Wright, Haroon Saeed, et al.
American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.
Cellular and Molecular Life Sciences : CMLS|November 3, 2023
Clinical and functional consequences of GRIA variants in patients with neurological diseasesWenshu XiangWei, Riley E Perszyk, Nana Liu, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, et al.
American Journal of Human Genetics|May 6, 2003
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportJuha Kolehmainen, Graeme C M Black, Anne Saarinen, et al.
American Journal of Human Genetics|July 9, 2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson, Philip G Murray, James O'Sullivan, et al.
Familial Cancer|July 26, 2012
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminomaStephanie Smetsers, Joanne Muter, Claire Bristow, et al.
American Journal of Medical Genetics. Part A|February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndromeSara Griffiths, Chey Loveday, Anna Zachariou, et al.
Osteoarthritis and Cartilage|February 6, 2026
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathwaySteven Woods, Nicola Bates, Stuart Cain, et al.
American Journal of Human Genetics|May 14, 2004
Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|June 25, 2021
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experienceLeslie P Molina-Ramírez, Emma Mm Burkitt-Wright, Haroon Saeed, et al.
American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.
Cellular and Molecular Life Sciences : CMLS|November 3, 2023
Clinical and functional consequences of GRIA variants in patients with neurological diseasesWenshu XiangWei, Riley E Perszyk, Nana Liu, et al.
Pageof 5