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Journal of Medical Genetics|May 1, 1991
Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern FranceC Stoll, Y Alembik, B Dott, et al.Journal of Medical Genetics|April 15, 2025
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysisJoowon Jang, Hobin Sung, Jung-Ae Lee, et al.Journal of Medical Genetics|April 1, 2025
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research studyThanuja Selvanayagam, Ny Hoang, Ege Sarikaya, et al.Journal of Medical Genetics|June 3, 2025
Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean ChineseMathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, et al.Journal of Medical Genetics|May 30, 2025
Using long-read sequencing to detect and subtype a case with Temple syndromeSarah Dada, Vahid Akbari, Duha Hejla, et al.Journal of Medical Genetics|May 11, 2025
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing lossYue Liang, Shubin Fang, Xiaoqing Cen, et al.Journal of Medical Genetics|February 14, 2026
Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation studyMaartje A C Schreurs, Antoinette Hollestelle, Muriel A Adank, et al.Journal of Medical Genetics|February 17, 2026
End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromesL Damen, M F Broekema, M J Vogel, et al.Journal of Medical Genetics|February 17, 2026
Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variantsAnna H Hakonen, Susann Karlberg, Kirsi Kiiski, et al.Journal of Medical Genetics|March 26, 2025
Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1Tabea Isabelle Hartung, Lan Kluwe, Said Chosro FarschtschiPageof 649