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Charles Shaw-Smith

Showing results (11-20 of 47) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2009
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjectsGurdeep S Sagoo, Adam S Butterworth, Simon Sanderson, et al.
Diabetes|December 11, 2012
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiencyElisa De Franco, Charles Shaw-Smith, Sarah E Flanagan, et al.
BMC Nephrology|July 14, 2017
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case reportRhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yieldsSubu Subramonia-Iyer, Simon Sanderson, Gurdeep Sagoo, et al.
American Journal of Medical Genetics. Part A|May 15, 2007
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?Dagmar Wieczorek, Charles Shaw-Smith, Jürgen Kohlhase, et al.
The Journal of Biological Chemistry|April 26, 2011
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensationJustin W Leung, Andrea Leitch, Jamie L Wood, et al.
Nature Genetics|December 14, 2011
GATA6 haploinsufficiency causes pancreatic agenesis in humansHana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, et al.
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.
Pageof 5

Showing results (11-20 of 47) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2009
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjectsGurdeep S Sagoo, Adam S Butterworth, Simon Sanderson, et al.
Diabetes|December 11, 2012
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiencyElisa De Franco, Charles Shaw-Smith, Sarah E Flanagan, et al.
BMC Nephrology|July 14, 2017
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case reportRhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yieldsSubu Subramonia-Iyer, Simon Sanderson, Gurdeep Sagoo, et al.
American Journal of Medical Genetics. Part A|May 15, 2007
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?Dagmar Wieczorek, Charles Shaw-Smith, Jürgen Kohlhase, et al.
The Journal of Biological Chemistry|April 26, 2011
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensationJustin W Leung, Andrea Leitch, Jamie L Wood, et al.
Nature Genetics|December 14, 2011
GATA6 haploinsufficiency causes pancreatic agenesis in humansHana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, et al.
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.
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