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Journal of Medical Genetics|September 1, 1987
Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8S R Diehl, M Boehnke, F S Collins, et al.Journal of Medical Genetics|February 1, 1988
Norrie disease resulting from a gene deletion: clinical features and DNA studiesD Donnai, R C Mountford, A P ReadJournal of Medical Genetics|April 7, 2022
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseasesSung Eun Hong, Jana Kneissl, Anna Cho, et al.Journal of Medical Genetics|April 8, 2022
Practice guidelines for BRCA1/2 tumour testing in ovarian cancerDaria Grafodatskaya, Darren D O'Rielly, Karine Bedard, et al.Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2BStefanie Brock, Annie Laquerriere, Florent Marguet, et al.Journal of Medical Genetics|October 20, 2021
SOX10: 20 years of phenotypic plurality and current understanding of its developmental functionVeronique Pingault, Lisa Zerad, William Bertani-Torres, et al.Journal of Medical Genetics|October 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.Journal of Medical Genetics|June 1, 1978
Inducibility of aryl hydrocarbon hydroxylase in cultured human lymphocytes: a study of repeatabilityK A Fletcher, D A Evans, M V CanningJournal of Medical Genetics|April 13, 2022
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variantChristopher Mark Watson, Lucy Jackson, Laura A Crinnion, et al.Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.Pageof 649