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A Micheil Innes

Showing results (81-90 of 156) with videos related to

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The New England Journal of Medicine|September 23, 2016
The Role of PIEZO2 in Human MechanosensationAlexander T Chesler, Marcin Szczot, Diana Bharucha-Goebel, et al.
Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Pageof 16

Showing results (81-90 of 156) with videos related to

Sort By:
Pageof 16
The New England Journal of Medicine|September 23, 2016
The Role of PIEZO2 in Human MechanosensationAlexander T Chesler, Marcin Szczot, Diana Bharucha-Goebel, et al.
Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
American Journal of Human Genetics|May 15, 2012
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeDan Doherty, Albert E Chudley, Gail Coghlan, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
Pageof 16