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Ruth Armstrong

Showing results (51-60 of 61) with videos related to

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American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Nature Medicine|July 2, 2024
Benefits for children with suspected cancer from routine whole-genome sequencingAngus Hodder, Sarah M Leiter, Jonathan Kennedy, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
JAMA|October 28, 2024
Early Intervention in Patients With Asymptomatic Severe Aortic Stenosis and Myocardial Fibrosis: The EVOLVED Randomized Clinical TrialKrithika Loganath, Neil J Craig, Russell J Everett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Nature Medicine|July 2, 2024
Benefits for children with suspected cancer from routine whole-genome sequencingAngus Hodder, Sarah M Leiter, Jonathan Kennedy, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
JAMA|October 28, 2024
Early Intervention in Patients With Asymptomatic Severe Aortic Stenosis and Myocardial Fibrosis: The EVOLVED Randomized Clinical TrialKrithika Loganath, Neil J Craig, Russell J Everett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
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