Showing results (11-20 of 124) with videos related to

Sort By:
Pageof 13
Pediatric Transplantation|February 18, 2018
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-upTanguy Demaret, Sharat Varma, Xavier Stephenne, et al.
Gene Expression Patterns : GEP|June 16, 2009
Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardationVincent Cantagrel, Marie-Reine Haddad, Philippe Ciofi, et al.
American Journal of Medical Genetics. Part A|April 15, 2015
TCF12 microdeletion in a 72-year-old woman with intellectual disabilityJuliette Piard, Virginie Rozé, Alain Czorny, et al.
Annals of Neurology|November 26, 2002
Coenzyme Q-responsive Leigh's encephalopathy in two sistersLionel Van Maldergem, Frans Trijbels, Salvatore DiMauro, et al.
Human Genetics|August 22, 2002
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanismVéronique Pingault, Mathilde Girard, Nadège Bondurand, et al.
American Journal of Medical Genetics. Part A|July 1, 2014
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2Juliette Piard, Brigitte Mignot, Francine Arbez-Gindre, et al.
European Journal of Medical Genetics|September 22, 2018
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletionNicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, et al.
Pediatrics|December 14, 2011
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)Maria Eckart, Ulf-Peter Guenther, Jan Idkowiak, et al.
European Journal of Medical Genetics|December 10, 2019
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophyEmilien Faudi, Elise Brischoux-Boucher, Céline Huber, et al.
European Journal of Pediatrics|May 22, 2015
Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?Rachel J van der Pol, Marc A Benninga, Jocelyne Magré, et al.
Pageof 13