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Journal of Medical Genetics|August 5, 2024
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancerJosep Oriola, Orland Díez, Mireia Mora, et al.Journal of Medical Genetics|April 14, 2006
Predicting disease genes using protein-protein interactionsM Oti, B Snel, M A Huynen, et al.Journal of Medical Genetics|April 14, 2006
Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulationT Li, L A Lange, X Li, et al.Journal of Medical Genetics|April 15, 2006
SMAD4 mutations found in unselected HHT patientsC J Gallione, J A Richards, T G W Letteboer, et al.Journal of Medical Genetics|May 2, 2006
Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1Q Zhang, X Guo, X Xiao, et al.Journal of Medical Genetics|May 2, 2006
Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutationD O Robinson, A J Wills, S R Hammans, et al.Journal of Medical Genetics|March 25, 2006
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene clusterJ B Vincent, S I Horike, S Choufani, et al.Journal of Medical Genetics|March 31, 2006
Cerebral cavernous malformation: new molecular and clinical insightsN Revencu, M VikkulaJournal of Medical Genetics|March 31, 2006
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease courseS Schön, V Schulz, C Prante, et al.Journal of Medical Genetics|April 1, 1991
Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of EnglandL A Tyfield, M J Osborn, J B HoltonPageof 649