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Journal of Medical Genetics|October 26, 2019
Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysisHansong Lee, Seongdo Jeong, Yeuni Yu, et al.Journal of Medical Genetics|April 26, 2020
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organismsSabine Dittner-Moormann, Charles Marques Lourenco, Janine Reunert, et al.Journal of Medical Genetics|October 1, 1984
Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern IrelandM J Seller, N C NevinJournal of Medical Genetics|October 1, 1984
A familial insertion involving an active nucleolar organiser within chromosome 12J L Watt, D A Couzin, D J Lloyd, et al.Journal of Medical Genetics|October 1, 1984
A malformed girl with duplication of chromosome 9qY Nakahori, Y NakagomeJournal of Medical Genetics|June 1, 1983
Fragile X chromosome: clinical and cytogenetic studies on cases from seven familiesA McDermott, R Walters, R T Howell, et al.Journal of Medical Genetics|June 1, 1983
alpha-Thalassaemia in Apulia: biosynthetic studiesG Guanti, A Lonoce, A Pietrapertosa, et al.Journal of Medical Genetics|December 1, 1984
Familial paracentric inversion of chromosome 15 (q15q24)G Del Porto, E D'Alessandro, C De Matteis, et al.Journal of Medical Genetics|December 1, 1984
Stub thumbs in Israel revisitedR M Goodman, A Feinstein, M HertzJournal of Medical Genetics|December 1, 1984
A rare heterochromatic variant of chromosome 4Z Docherty, S M Bowser-RileyPageof 649