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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Calcified Tissue International|November 8, 2025
Baseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis ImperfectaJannie Dahl Hald, Christopher Weir, Catriona Keerie, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
JAMA|May 14, 2026
Teriparatide Plus Zoledronic Acid for Osteogenesis Imperfecta: A Randomized Clinical TrialJannie Dahl Hald, Christopher J Weir, Catriona Keerie, et al.
American Journal of Medical Genetics. Part A|September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusMary R Sy, Jaynee Chauhan, Katrina Prescott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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