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Charles Shaw

Showing results (31-40 of 62) with videos related to

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American Journal of Medical Genetics. Part A|November 21, 2012
Clinical geneticists' views of VACTERL/VATER associationBenjamin D Solomon, Kelly A Bear, Virginia Kimonis, et al.
Kidney International|May 29, 2016
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorderRhian L Clissold, Charles Shaw-Smith, Peter Turnpenny, et al.
Pediatric Diabetes|February 29, 2012
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemiaCharles Shaw-Smith, Sarah E Flanagan, Ann-Marie Patch, et al.
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.
The Journal of Organic Chemistry|December 21, 2002
A new procedure for preparation of carboxylic acid hydrazidesXini Zhang, Michael Breslav, Jeffrey Grimm, 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.
Pageof 7

Showing results (31-40 of 62) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|November 21, 2012
Clinical geneticists' views of VACTERL/VATER associationBenjamin D Solomon, Kelly A Bear, Virginia Kimonis, et al.
Kidney International|May 29, 2016
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorderRhian L Clissold, Charles Shaw-Smith, Peter Turnpenny, et al.
Pediatric Diabetes|February 29, 2012
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemiaCharles Shaw-Smith, Sarah E Flanagan, Ann-Marie Patch, et al.
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.
The Journal of Organic Chemistry|December 21, 2002
A new procedure for preparation of carboxylic acid hydrazidesXini Zhang, Michael Breslav, Jeffrey Grimm, 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.
Pageof 7