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Sarah Smithson

Showing results (21-30 of 53) with videos related to

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Case Reports in Pediatrics|September 17, 2025
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in <i>CTBP1</i> Identified via Whole Genome SequencingSilvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, et al.
European Journal of Human Genetics : EJHG|April 10, 2014
Predictive testing for inherited prion disease: report of 22 years experienceJane Owen, Jon Beck, Tracy Campbell, et al.
Frontiers in Neurology|August 15, 2020
<i>SETD5</i> Gene Haploinsufficiency in Three Patients With Suspected KBG SyndromeMilena Crippa, Ilaria Bestetti, Silvia Maitz, et al.
Archives of Disease in Childhood|November 9, 2021
Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort studyPatrick Thornley, Nicholas Bishop, Duncan Baker, et al.
American Journal of Medical Genetics. Part A|January 15, 2019
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literatureRuth Cleaver, Jonathan Berg, Emily Craft, et al.
American Journal of Human Genetics|July 17, 2012
De novo mutations in MLL cause Wiedemann-Steiner syndromeWendy D Jones, Dimitra Dafou, Meriel McEntagart, et al.
Archives of Disease in Childhood|July 27, 2010
Autism, language and communication in children with sex chromosome trisomiesDorothy V M Bishop, Patricia A Jacobs, Katherine Lachlan, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Cantú syndrome: report of nine new cases and expansion of the clinical phenotypeIngrid Scurr, Louise Wilson, Melissa Lees, et al.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
American Journal of Human Genetics|May 16, 2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIINathalie Dagoneau, Marie Goulet, David Geneviève, et al.
Pageof 6

Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
Case Reports in Pediatrics|September 17, 2025
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in <i>CTBP1</i> Identified via Whole Genome SequencingSilvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, et al.
European Journal of Human Genetics : EJHG|April 10, 2014
Predictive testing for inherited prion disease: report of 22 years experienceJane Owen, Jon Beck, Tracy Campbell, et al.
Frontiers in Neurology|August 15, 2020
<i>SETD5</i> Gene Haploinsufficiency in Three Patients With Suspected KBG SyndromeMilena Crippa, Ilaria Bestetti, Silvia Maitz, et al.
Archives of Disease in Childhood|November 9, 2021
Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort studyPatrick Thornley, Nicholas Bishop, Duncan Baker, et al.
American Journal of Medical Genetics. Part A|January 15, 2019
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literatureRuth Cleaver, Jonathan Berg, Emily Craft, et al.
American Journal of Human Genetics|July 17, 2012
De novo mutations in MLL cause Wiedemann-Steiner syndromeWendy D Jones, Dimitra Dafou, Meriel McEntagart, et al.
Archives of Disease in Childhood|July 27, 2010
Autism, language and communication in children with sex chromosome trisomiesDorothy V M Bishop, Patricia A Jacobs, Katherine Lachlan, et al.
American Journal of Medical Genetics. Part A|February 24, 2011
Cantú syndrome: report of nine new cases and expansion of the clinical phenotypeIngrid Scurr, Louise Wilson, Melissa Lees, et al.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
American Journal of Human Genetics|May 16, 2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIINathalie Dagoneau, Marie Goulet, David Geneviève, et al.
Pageof 6