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The Journal of Clinical Endocrinology and Metabolism|January 20, 2023
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis ImperfectaWinnie Liu, Brendan Lee, Sandesh C S Nagamani, et al.
Molecular Genetics and Metabolism|June 4, 2014
Improved standards for prenatal diagnosis of citrullinemiaMarcus J Miller, Claudia R Soler-Alfonso, Jaime E Grund, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
A genome-wide screen for copy number alterations in Aicardi syndromeXiaoling Wang, V Reid Sutton, Tanya N Eble, et al.
JIMD Reports|December 1, 2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated PropionylcarnitineGerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, et al.
European Journal of Medical Genetics|December 30, 2018
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type VJean-Marc Retrouvey, Doaa Taqi, Faleh Tamimi, et al.
Cell Reports|December 4, 2014
A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cellsJason Ross, Julia Busch, Ellen Mintz, et al.
Molecular Genetics and Metabolism|June 14, 2008
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiencyPaul J Isackson, Michael J Bennett, Uta Lichter-Konecki, et al.
Molecular Genetics and Metabolism|May 10, 2015
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasmaPaldeep S Atwal, Taraka R Donti, Aaron L Cardon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2019
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis ImperfectaChaya N Murali, David Cuthbertson, Brady Slater, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2026
Reproductive Carrier Screening Detects Early Actionable Metabolic ConditionsChristian M Parobek, Roni Zemet, Vivienne Souter, et al.
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