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A Micheil Innes

Showing results (51-60 of 156) with videos related to

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Journal of Neuropathology and Experimental Neurology|October 8, 2014
Neuropathologic features of pontocerebellar hypoplasia type 6Jeffrey T Joseph, A Micheil Innes, Amanda C Smith, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.
American Journal of Human Genetics|November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in HumansHanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
Human Mutation|October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosisDanielle C Lynch, David A Dyment, Lijia Huang, et al.
Cell|March 23, 2019
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersKym M Boycott, Taila Hartley, Leslie G Biesecker, et al.
Prenatal Diagnosis|April 22, 2009
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardiaAngela E Lin, Barbara O'Brien, Laurie A Demmer, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
American Journal of Medical Genetics. Part A|February 6, 2008
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?Karen W Gripp, A Micheil Innes, Marni E Axelrad, et al.
Pageof 16

Showing results (51-60 of 156) with videos related to

Sort By:
Pageof 16
Journal of Neuropathology and Experimental Neurology|October 8, 2014
Neuropathologic features of pontocerebellar hypoplasia type 6Jeffrey T Joseph, A Micheil Innes, Amanda C Smith, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.
American Journal of Human Genetics|November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in HumansHanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
Human Mutation|October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosisDanielle C Lynch, David A Dyment, Lijia Huang, et al.
Cell|March 23, 2019
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersKym M Boycott, Taila Hartley, Leslie G Biesecker, et al.
Prenatal Diagnosis|April 22, 2009
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardiaAngela E Lin, Barbara O'Brien, Laurie A Demmer, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
American Journal of Medical Genetics. Part A|February 6, 2008
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?Karen W Gripp, A Micheil Innes, Marni E Axelrad, et al.
Pageof 16