Showing results (311-320 of 371) with videos related to

Sort By:
Pageof 38
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung diseaseC Bidaud, R Salomon, G Van Camp, et al.
American Journal of Human Genetics|December 1, 1996
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 geneJ A Terrett, R Newbury-Ecob, N M Smith, et al.
Neuropediatrics|March 17, 2006
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic studyS Romano, N Boddaert, I Desguerre, et al.
The Journal of Pediatrics|July 11, 2001
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndromeH De Leersnyder, M C De Blois, B Claustrat, et al.
The British Journal of Dermatology|March 27, 2007
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patientsJ Mazereeuw-Hautier, E Bitoun, J Chevrant-Breton, et al.
The Journal of Clinical Endocrinology and Metabolism|November 10, 2001
Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropinF Sandrini, C Farmakidis, L S Kirschner, et al.
Clinical Genetics|April 10, 2002
A CGH study of 27 patients with CHARGE associationD Sanlaville, S P Romana, J M Lapierre, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 22, 2005
Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locusG Di Nardo, A Tullio-Pelet, V Annese, et al.
Annales De Dermatologie Et De Venereologie|March 21, 2024
French national protocol for the management of congenital ichthyosisM Severino-Freire, C Granier Tournier, C Chiaverini, et al.
Pageof 38