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Clinical Genetics|March 28, 2019
Current knowledge of medical complications in adults with achondroplasia: A scoping reviewSvein O Fredwall, Grethe Maanum, Heidi Johansen, et al.
Clinical Genetics|March 29, 2019
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowthSofia Frisk, Fulya Taylan, Izabela Blaszczyk, et al.
Clinical Genetics|March 20, 2019
Bain type of X-linked syndromic mental retardation in boysStefani Harmsen, Rebecca Buchert, Ertan Mayatepek, et al.
Clinical Genetics|January 1, 1986
A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness)E Friedman, A Blau, Z Farfel
Clinical Genetics|April 5, 2019
Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limbMuhammad Umair, Muhammad Bilal, Raja H Ali, et al.
Clinical Genetics|July 27, 2019
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasiaEwa Hordyjewska-Kowalczyk, Anna Sowińska-Seidler, Ewelina M Olech, et al.
Clinical Genetics|July 20, 2019
Development of a measure of genome sequencing knowledge for young people: The kids-KOGSCeline Lewis, Bao S Loe, Chris Sidey-Gibbons, et al.
Clinical Genetics|April 4, 2019
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patientsDominique P Germain, Alain Fouilhoux, Stéphane Decramer, et al.
Clinical Genetics|July 26, 2019
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interactionAnna Jakubiuk-Tomaszuk, Victor Murcia Pienkowski, Szymon Zietkiewicz, et al.
Clinical Genetics|January 21, 2017
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype studyC Tardieu, S Jung, K Niederreither, et al.
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