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American Journal of Medical Genetics|January 8, 1999
Expression of the RET proto-oncogene in human embryosT Attié-Bitach, M Abitbol, M Gérard, et al.Archives of Pathology & Laboratory Medicine|February 7, 1998
Human T-cell lymphotropic virus-1-positive T-cell leukemia/lymphoma in a child. Report of a case and review of the literatureB T Lin, M Musset, A M Székely, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|October 17, 2020
Secukinumab demonstrates high efficacy and a favourable safety profile in paediatric patients with severe chronic plaque psoriasis: 52-week results from a Phase 3 double-blind randomized, controlled trialC Bodemer, A Kaszuba, K Kingo, et al.American Journal of Medical Genetics|February 25, 1998
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndromeM Bahuau, C Houdayer, B Assouline, et al.Clinical Genetics|April 30, 2017
The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C functionC T Gordon, A Tessier, Z Demir, et al.Proceedings of the National Academy of Sciences of the United States of America|February 1, 1991
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutationG A Mitchell, D Labuda, G Fontaine, et al.Prenatal Diagnosis|October 19, 2005
Gorlin syndrome presenting as prenatal chylothorax in a girlD Geneviève, E Walter, P Gorry, et al.Journal of Medical Genetics|July 7, 2000
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow upD Sanlaville, M C Aubry, Y Dumez, et al.American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.Journal of Vascular Research|April 16, 2005
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndromeS M Dridi, A Foucault Bertaud, S Igondjo Tchen, et al.Pageof 38