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Journal of Medical Genetics|April 5, 2003
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndromeL Bentley, K Nakabayashi, D Monk, et al.Journal of Medical Genetics|April 5, 2003
Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucomaS-Y Liao, S Ivanov, A Ivanova, et al.Journal of Medical Genetics|April 5, 2003
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsE Nandrot, C Slingsby, A Basak, et al.Journal of Medical Genetics|November 16, 2021
Genotype-phenotype correlation in clubfoot (talipes equinovarus)Ewa Hordyjewska-Kowalczyk, Karol Nowosad, Aleksander Jamsheer, et al.Journal of Medical Genetics|March 8, 2019
NAA10 polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.Journal of Medical Genetics|March 11, 2019
Promising member of the short interspersed nuclear elements (Alu elements): mechanisms and clinical applications in human cancersYun Jiang, Wei Zong, Shaoqing Ju, et al.Journal of Medical Genetics|March 17, 2019
Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectivesRicardo Rodriguez-Calvo, Luis MasanaJournal of Medical Genetics|March 17, 2019
Evidence for heightened genetic instability in precancerous spasmolytic polypeptide expressing gastric glandsJiangrong Chen, Chunchao Zhu, Chaojie Wang, et al.Journal of Medical Genetics|March 17, 2019
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndromeRachel Pearlman, Sigurdis Haraldsdottir, Albert de la Chapelle, et al.Journal of Medical Genetics|March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activationSusanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.Pageof 649