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Journal of Medical Genetics|April 1, 1981
Neuronal ceroid lipofuscinosis and arthropathy: a family studyR Proops, S H Green
Journal of Medical Genetics|April 1, 1981
Prenatal diagnosis for adenosine deaminase deficiencyJ B Ziegler, M B Van der Weyden, C H Lee, et al.
Journal of Medical Genetics|June 1, 1981
Inheritance of a ring 14 chromosomeS B Riley, K E Buckton, S G Ratcliffe, et al.
Journal of Medical Genetics|June 1, 1981
Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0)J L Watt, D A Couzin, A W Johnston, et al.
Journal of Medical Genetics|June 1, 1981
Anal atresia and the Klein-Waardenburg syndromeJ Nutman, I Nissenkorn, I Varsano, et al.
Journal of Medical Genetics|May 31, 2015
Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levelsAmélie Bonnefond, Amel Lamri, Audrey Leloire, et al.
Journal of Medical Genetics|May 19, 2021
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndromeKun Hu, Malgorzata Zatyka, Dewi Astuti, et al.
Journal of Medical Genetics|June 1, 1988
Partial gene duplication in Duchenne and Becker muscular dystrophiesX Y Hu, A H Burghes, P N Ray, et al.
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