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Journal of Medical Genetics|June 1, 1992
Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?B UddJournal of Medical Genetics|June 1, 1992
Use of oocytes from anonymous, matched, fertile donors for prevention of heritable genetic diseasesB J Van Voorhis, R A Williamson, J L Gerard, et al.Journal of Medical Genetics|June 1, 1992
An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosisB Say, F A Hommes, S A Malik, et al.Journal of Medical Genetics|June 1, 1992
Recurrence of orbital cysts in the branchio-oculo-facial syndromeD W Fielding, A E FryerJournal of Medical Genetics|June 1, 1992
Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasoundG Castiñeyra, M Panal, H Lopez Presas, et al.Journal of Medical Genetics|September 27, 2005
ETHE1 mutations are specific to ethylmalonic encephalopathyV Tiranti, E Briem, E Lamantea, et al.Journal of Medical Genetics|August 25, 2005
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatmentA Del Fattore, B Peruzzi, N Rucci, et al.Journal of Medical Genetics|April 14, 2005
A male-specific quantitative trait locus on 1p21 controlling human statureS Sammalisto, T Hiekkalinna, E Suviolahti, et al.Journal of Medical Genetics|December 14, 2004
Parkinsonism among Gaucher disease carriersO Goker-Alpan, R Schiffmann, M E LaMarca, et al.Journal of Medical Genetics|January 1, 1992
Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomaliesR S Verma, R A Conte, J H Pitter, et al.Pageof 649