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David Mowat

Showing results (41-50 of 83) with videos related to

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Journal of Paediatrics and Child Health|April 1, 2011
An Australian tuberous sclerosis cohort: are surveillance guidelines being met?Maya Chopra, John A Lawson, Meredith Wilson, et al.
Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
American Journal of Human Genetics|March 29, 2005
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisNingwu Huang, Amit V Pandey, Vishal Agrawal, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathyAlison G Compton, Douglas E Albrecht, Jane T Seto, et al.
Health Promotion and Chronic Disease Prevention in Canada : Research, Policy and Practice|January 12, 2018
Healthy food procurement and nutrition standards in public facilities: evidence synthesis and consensus policy recommendationsKim D Raine, Kayla Atkey, Dana Lee Olstad, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
BMJ Open Respiratory Research|February 22, 2022
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of lifeLauren Kelada, Claire Wakefield, Nada Vidic, et al.
Human Molecular Genetics|March 8, 2013
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeJamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, et al.
Orphanet Journal of Rare Diseases|July 18, 2019
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disordersTobias Geis, Tanja Rödl, Haluk Topaloğlu, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.
Pageof 9

Showing results (41-50 of 83) with videos related to

Sort By:
Pageof 9
Journal of Paediatrics and Child Health|April 1, 2011
An Australian tuberous sclerosis cohort: are surveillance guidelines being met?Maya Chopra, John A Lawson, Meredith Wilson, et al.
Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
American Journal of Human Genetics|March 29, 2005
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisNingwu Huang, Amit V Pandey, Vishal Agrawal, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathyAlison G Compton, Douglas E Albrecht, Jane T Seto, et al.
Health Promotion and Chronic Disease Prevention in Canada : Research, Policy and Practice|January 12, 2018
Healthy food procurement and nutrition standards in public facilities: evidence synthesis and consensus policy recommendationsKim D Raine, Kayla Atkey, Dana Lee Olstad, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
BMJ Open Respiratory Research|February 22, 2022
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of lifeLauren Kelada, Claire Wakefield, Nada Vidic, et al.
Human Molecular Genetics|March 8, 2013
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeJamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, et al.
Orphanet Journal of Rare Diseases|July 18, 2019
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disordersTobias Geis, Tanja Rödl, Haluk Topaloğlu, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.
Pageof 9