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A Micheil Innes

Showing results (71-80 of 156) with videos related to

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European Journal of Human Genetics : EJHG|June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literatureP Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
Neurology|September 22, 2019
Adult <i>MTM1</i>-related myopathy carriers: Classification based on deep phenotypingBenjamin T Cocanougher, Lauren Flynn, Pomi Yun, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophyJaya Punetha, Ender Karaca, Alper Gezdirici, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
Ebiomedicine|June 25, 2019
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyWalaa Almutawa, Christopher Smith, Rasha Sabouny, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3Ryan E Lamont, Jc Loredo-Osti, Nicole M Roslin, et al.
American Journal of Human Genetics|June 2, 2009
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasiaAna Belinda Campos-Xavier, Danielle Martinet, John Bateman, et al.
Pageof 16

Showing results (71-80 of 156) with videos related to

Sort By:
Pageof 16
European Journal of Human Genetics : EJHG|June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literatureP Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
Neurology|September 22, 2019
Adult <i>MTM1</i>-related myopathy carriers: Classification based on deep phenotypingBenjamin T Cocanougher, Lauren Flynn, Pomi Yun, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophyJaya Punetha, Ender Karaca, Alper Gezdirici, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
Ebiomedicine|June 25, 2019
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyWalaa Almutawa, Christopher Smith, Rasha Sabouny, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3Ryan E Lamont, Jc Loredo-Osti, Nicole M Roslin, et al.
American Journal of Human Genetics|June 2, 2009
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasiaAna Belinda Campos-Xavier, Danielle Martinet, John Bateman, et al.
Pageof 16