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Charles Shaw-Smith

Showing results (21-30 of 47) with videos related to

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Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|May 17, 2011
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornFlore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, et al.
Diabetes|June 11, 2016
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A MutationJayne A L Houghton, Galvin H Swift, Charles Shaw-Smith, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 23, 2003
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneityEnza-Maria Valente, Anjum Misbahuddin, Francesco Brancati, et al.
Human Mutation|April 14, 2025
The Common <i>PKD1</i> p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney DiseaseMiranda Durkie, Christopher M Watson, Peter Winship, et al.
The Journal of Clinical Investigation|October 27, 2009
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in miceVictoria Randall, Karen McCue, Catherine Roberts, et al.
American Journal of Medical Genetics. Part A|April 11, 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlationsMegan E Rech, John M McCarthy, Chun-An Chen, et al.
HGG Advances|February 4, 2021
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndromeEmma Wakeling, Meriel McEntagart, Michael Bruccoleri, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Diabetes|April 4, 2014
GATA4 mutations are a cause of neonatal and childhood-onset diabetesCharles Shaw-Smith, Elisa De Franco, Hana Lango Allen, et al.
Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|May 17, 2011
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornFlore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, et al.
Diabetes|June 11, 2016
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A MutationJayne A L Houghton, Galvin H Swift, Charles Shaw-Smith, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 23, 2003
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneityEnza-Maria Valente, Anjum Misbahuddin, Francesco Brancati, et al.
Human Mutation|April 14, 2025
The Common <i>PKD1</i> p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney DiseaseMiranda Durkie, Christopher M Watson, Peter Winship, et al.
The Journal of Clinical Investigation|October 27, 2009
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in miceVictoria Randall, Karen McCue, Catherine Roberts, et al.
American Journal of Medical Genetics. Part A|April 11, 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlationsMegan E Rech, John M McCarthy, Chun-An Chen, et al.
HGG Advances|February 4, 2021
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndromeEmma Wakeling, Meriel McEntagart, Michael Bruccoleri, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Diabetes|April 4, 2014
GATA4 mutations are a cause of neonatal and childhood-onset diabetesCharles Shaw-Smith, Elisa De Franco, Hana Lango Allen, et al.
Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.
Pageof 5