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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkersMichael F Wangler, Leroy Hubert, Taraka R Donti, et al.Advances in Therapy|February 28, 2026
Pathways to Facilitate Early Recognition and Diagnosis of HypochondroplasiaMelita Irving, Elena Greco, Alessandra Cocca, et al.Molecular Genetics and Metabolism|August 24, 2020
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathwayBrian J Shayota, Taraka R Donti, Jing Xiao, et al.Disability and Rehabilitation|June 6, 2024
Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis ImperfectaHannah E Cho, Whitney S Shepherd, Gianna M Colombo, et al.Kidney International Reports|October 18, 2023
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney FailureYishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, et al.American Journal of Medical Genetics. Part A|November 30, 2019
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song, et al.American Journal of Human Genetics|March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromeJanson J White, Juliana F Mazzeu, Alexander Hoischen, et al.American Journal of Human Genetics|October 7, 2022
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movementShenzhao Lu, Mengqi Ma, Xiao Mao, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2018
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter studyMahim Jain, Allison Tam, Jay R Shapiro, et al.Journal of Child Health Care : for Professionals Working with Children in the Hospital and Community|September 12, 2025
A qualitative exploration of child, caregiver, and clinician perspectives on mental health in children with osteogenesis imperfectaJustin H Qian, Andrew D Wiese, Clarissa Gonzalez, et al.Pageof 18