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Charles Shaw-Smith

Showing results (1-10 of 47) with videos related to

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European Journal of Medical Genetics|October 14, 2009
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literatureCharles Shaw-Smith
Pediatric Surgery International|June 16, 2010
Review of genetic factors in intestinal malrotationVicki Martin, Charles Shaw-Smith
Clinical Dysmorphology|June 3, 2005
Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literatureCharles Shaw-Smith, Lionel Willatt, Nandu Thalange
Clinical Nephrology|January 29, 2019
Familial interstitial nephritis: 42 years from case series to genetic diagnosisRhian L Clissold, Coralie Bingham, Charles Shaw-Smith
Methods in Molecular Biology (Clifton, N.J.)|March 7, 2009
Chromosome engineering in ES cellsLouise van der Weyden, Charles Shaw-Smith, Allan Bradley
BMJ (Clinical Research Ed.)|December 5, 2012
Many patients have an identifiable genetic cause of Hirschsprung's diseaseFrancis H Sansbury, Sian Ellard, Charles Shaw-Smith, et al.
Clinical Dysmorphology|June 11, 2008
Keipert syndrome: two further cases and review of the literatureSerena Nik-Zainal, Sue E Holder, Michelle Cruwys, et al.
Clinical Endocrinology|September 20, 2007
MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumoursVirginia E Clowes, Charles Shaw-Smith, Helen Simpson, et al.
Pediatric Research|November 18, 2016
A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24Kate V Everett, Paris Ataliotis, Barry A Chioza, et al.
Hormone Research in Paediatrics|July 18, 2015
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer MutationE Nazlı Gonc, Alev Ozon, Ayfer Alikasifoglu, et al.
Pageof 5

Showing results (1-10 of 47) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|October 14, 2009
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literatureCharles Shaw-Smith
Pediatric Surgery International|June 16, 2010
Review of genetic factors in intestinal malrotationVicki Martin, Charles Shaw-Smith
Clinical Dysmorphology|June 3, 2005
Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literatureCharles Shaw-Smith, Lionel Willatt, Nandu Thalange
Clinical Nephrology|January 29, 2019
Familial interstitial nephritis: 42 years from case series to genetic diagnosisRhian L Clissold, Coralie Bingham, Charles Shaw-Smith
Methods in Molecular Biology (Clifton, N.J.)|March 7, 2009
Chromosome engineering in ES cellsLouise van der Weyden, Charles Shaw-Smith, Allan Bradley
BMJ (Clinical Research Ed.)|December 5, 2012
Many patients have an identifiable genetic cause of Hirschsprung's diseaseFrancis H Sansbury, Sian Ellard, Charles Shaw-Smith, et al.
Clinical Dysmorphology|June 11, 2008
Keipert syndrome: two further cases and review of the literatureSerena Nik-Zainal, Sue E Holder, Michelle Cruwys, et al.
Clinical Endocrinology|September 20, 2007
MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumoursVirginia E Clowes, Charles Shaw-Smith, Helen Simpson, et al.
Pediatric Research|November 18, 2016
A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24Kate V Everett, Paris Ataliotis, Barry A Chioza, et al.
Hormone Research in Paediatrics|July 18, 2015
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer MutationE Nazlı Gonc, Alev Ozon, Ayfer Alikasifoglu, et al.
Pageof 5