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Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.Journal of Medical Genetics|July 8, 2022
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanismsCecilia Sena, Grazia Iannello, Alicja A Skowronski, et al.Journal of Medical Genetics|July 1, 1988
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migrationJ A Hurst, M Markiewicz, D Kumar, et al.Journal of Medical Genetics|October 1, 1988
Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndromeA Raas-Rothschild, R M Goodman, S Meyer, et al.Journal of Medical Genetics|October 1, 1988
Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended familyD Wellesley, I D Young, P Cooke, et al.Journal of Medical Genetics|July 16, 2021
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 yearsAlice Garrett, Sabrina Talukdar, Louise Izatt, et al.Journal of Medical Genetics|December 1, 1977
Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmissionP E FineJournal of Medical Genetics|November 1, 1987
Variant forms of ataxia telangiectasiaA M Taylor, E Flude, B Laher, et al.Journal of Medical Genetics|November 1, 1987
Congenital anal anomalies in two families with the Opitz G syndromeJ L Tolmie, N Coutts, I K DrainerJournal of Medical Genetics|December 1, 1987
Multiple pterygium syndrome: evolution of the phenotypeE M Thompson, D Donnai, M Baraitser, et al.Pageof 649