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Esther Kinning

Showing results (21-30 of 35) with videos related to

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European Journal of Human Genetics : EJHG|October 18, 2007
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHJohn C K Barber, Viv K Maloney, Shuwen Huang, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosisCaroline Michot, Carine Le Goff, Alice Goldenberg, et al.
European Journal of Human Genetics : EJHG|April 17, 2025
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion SyndromeClaire E Green, Shadi Albaba, Glenda J Sobey, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
American Journal of Medical Genetics. Part A|February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeLeonie A Menke, , Thatjana Gardeitchik, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|October 18, 2007
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHJohn C K Barber, Viv K Maloney, Shuwen Huang, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosisCaroline Michot, Carine Le Goff, Alice Goldenberg, et al.
European Journal of Human Genetics : EJHG|April 17, 2025
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion SyndromeClaire E Green, Shadi Albaba, Glenda J Sobey, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
American Journal of Medical Genetics. Part A|February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeLeonie A Menke, , Thatjana Gardeitchik, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
Pageof 4