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American Journal of Medical Genetics|May 8, 2000
Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type IaK Takahashi, J Akanuma, Y Matsubara, et al.American Journal of Medical Genetics|May 8, 2000
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesisJ Körkkö, D H Cohn, L Ala-Kokko, et al.American Journal of Medical Genetics|May 8, 2000
Metacarpophalangeal pattern profile analysis in Noonan syndromeM G Butler, R Kumar, M F Davis, et al.American Journal of Medical Genetics|May 8, 2000
Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial gliomaI Tachibana, J S Smith, K Sato, et al.American Journal of Medical Genetics|June 8, 2000
Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean feverC Dodé, C Pêcheux, C Cazeneuve, et al.American Journal of Medical Genetics|June 8, 2000
Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12)M Grabowski, C Fauth, A Wirtz, et al.American Journal of Medical Genetics|June 27, 2000
Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardationS Spranger, B Rommel, A Jauch, et al.American Journal of Medical Genetics|June 27, 2000
Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a childG K Gupta, L Milner, M A Linshaw, et al.American Journal of Medical Genetics|June 27, 2000
Assessment of soft tissue facial asymmetry in medically normal and syndrome-affected individuals by analysis of landmarks and measurementsD J Shaner, A E Peterson, O B Beattie, et al.American Journal of Medical Genetics|April 15, 2000
Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patternsM Matsuo, K Muroya, K Nanao, et al.Pageof 854