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Kay Metcalfe

Showing results (21-30 of 51) with videos related to

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European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.
Human Mutation|February 11, 2011
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis ComplexMarianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, et al.
European Journal of Medical Genetics|February 6, 2010
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?Feng Li, Yiping Shen, Udo Köhler, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, 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|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
American Journal of Human Genetics|May 15, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Christin S Adamo, Aude Beyens, et al.
HGG Advances|May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexitySlavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Brain : a Journal of Neurology|October 23, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaFrédéric M Vaz, John H McDermott, Mariëlle Alders, et al.
Pageof 6

Showing results (21-30 of 51) with videos related to

Sort By:
Pageof 6
European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.
Human Mutation|February 11, 2011
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis ComplexMarianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, et al.
European Journal of Medical Genetics|February 6, 2010
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?Feng Li, Yiping Shen, Udo Köhler, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, 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|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
American Journal of Human Genetics|May 15, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Christin S Adamo, Aude Beyens, et al.
HGG Advances|May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexitySlavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Brain : a Journal of Neurology|October 23, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaFrédéric M Vaz, John H McDermott, Mariëlle Alders, et al.
Pageof 6