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Sarah Smithson

Showing results (41-50 of 53) with videos related to

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Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Brain : a Journal of Neurology|March 23, 2013
A genetic study of Wilson's disease in the United KingdomAlison J Coffey, Miranda Durkie, Stephen Hague, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, 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|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Brain : a Journal of Neurology|March 23, 2013
A genetic study of Wilson's disease in the United KingdomAlison J Coffey, Miranda Durkie, Stephen Hague, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, 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|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.
Pageof 6