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Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.Journal of Medical Genetics|May 28, 2013
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variantsEster Borràs, Marta Pineda, Juan Cadiñanos, et al.Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, et al.Journal of Medical Genetics|July 23, 2013
Advances in osteoarthritis geneticsKalliope Panoutsopoulou, Eleftheria ZegginiJournal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.Journal of Medical Genetics|January 22, 2013
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndromeVirginie Bubien, Françoise Bonnet, Veronique Brouste, et al.Journal of Medical Genetics|January 23, 2013
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathySimon Edvardson, Shimrit Oz, Fida Aziz Abulhijaa, et al.Journal of Medical Genetics|December 18, 2012
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutationsMarianna Ciccolella, Stefania Corti, Michela Catteruccia, et al.Journal of Medical Genetics|March 1, 1990
Cranial hemihypertrophy and neurodevelopmental prognosisJ C Dean, G F Cole, R E Appleton, et al.Pageof 649