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Journal of Medical Genetics|January 14, 2021
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKBJun Wei, Zhuqing Shi, Rong Na, et al.Journal of Medical Genetics|January 14, 2021
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delaySiren Berland, Bjørn Ivar Haukanes, Petur Benedikt Juliusson, et al.Journal of Medical Genetics|December 7, 2021
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre studyKristoffer Björkman, John Vissing, Elsebet Østergaard, et al.Journal of Medical Genetics|October 1, 1987
Prevalence and mode of inheritance of major genetic eye diseases in ChinaD N HuJournal of Medical Genetics|October 1, 1987
Prevalence and genetic aspects of deaf mutism in ShanghaiD N Hu, W Q Qiu, B T Wu, et al.Journal of Medical Genetics|December 8, 2021
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalisMarie F Smeland, Pascal Brouillard, Trine Prescott, et al.Journal of Medical Genetics|December 8, 2021
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendationsPauline Le Tanno, Xenia Latypova, John Rendu, et al.Journal of Medical Genetics|June 1, 1986
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasiaG Rumsby, M C Carroll, R R Porter, et al.Journal of Medical Genetics|May 6, 2008
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutationR G E van Eijsden, L M T Eijssen, P J Lindsey, et al.Pageof 649