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Hormone Research in Paediatrics
|
July 18, 2015
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation
E Nazlı Gonc, Alev Ozon, Ayfer Alikasifoglu, et al.
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 subjects
Gurdeep 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 insufficiency
Elisa 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 report
Rhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, et al.
Frontline Gastroenterology
|
April 11, 2022
National survey evaluating the provision of gastroenterology dietetic services in England
Anupam Rej, Rachel Louise Buckle, Christian Charles Shaw, et al.
Journal of Biomaterials Science. Polymer Edition
|
November 23, 2017
Controlling the extrudate swell in melt extrusion additive manufacturing of 3D scaffolds: a designed experiment
Azizeh-Mitra Yousefi, Byran Smucker, Alex Naber, 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 yields
Subu 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 condensation
Justin W Leung, Andrea Leitch, Jamie L Wood, et al.
Nature Genetics
|
December 14, 2011
GATA6 haploinsufficiency causes pancreatic agenesis in humans
Hana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, et al.
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of 7
Search research articles
Search
Showing results (21-30 of 62) with videos related to
Sort By:
Page
of 7
Hormone Research in Paediatrics
|
July 18, 2015
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation
E Nazlı Gonc, Alev Ozon, Ayfer Alikasifoglu, et al.
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 subjects
Gurdeep 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 insufficiency
Elisa 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 report
Rhian L Clissold, Helen C Clarke, Olivera Spasic-Boskovic, et al.
Frontline Gastroenterology
|
April 11, 2022
National survey evaluating the provision of gastroenterology dietetic services in England
Anupam Rej, Rachel Louise Buckle, Christian Charles Shaw, et al.
Journal of Biomaterials Science. Polymer Edition
|
November 23, 2017
Controlling the extrudate swell in melt extrusion additive manufacturing of 3D scaffolds: a designed experiment
Azizeh-Mitra Yousefi, Byran Smucker, Alex Naber, 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 yields
Subu 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 condensation
Justin W Leung, Andrea Leitch, Jamie L Wood, et al.
Nature Genetics
|
December 14, 2011
GATA6 haploinsufficiency causes pancreatic agenesis in humans
Hana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, et al.
Page
of 7