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European Journal of Human Genetics : EJHG|October 22, 2009
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, et al.JIMD Reports|November 22, 2017
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase AlfaKenneth I Berger, Barbara K Burton, Gregory D Lewis, et al.Pediatric Annals|April 13, 2012
Guidelines for evaluating and managing children born with disorders of sexual developmentGanka Douglas, Marni E Axelrad, Mary L Brandt, et al.American Journal of Medical Genetics. Part A|August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal AbnormalitiesEnder Karaca, Jennifer E Posey, Bret Bostwick, et al.Molecular Genetics and Metabolism|November 24, 2019
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature reviewNishitha R Pillai, Bridget M Stroup, Anna Poliner, et al.Frontiers in Neuroscience|February 22, 2020
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.American Journal of Medical Genetics. Part A|October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndromeChaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.Molecular Genetics and Metabolism|December 23, 2017
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profilingKevin E Glinton, Paul J Benke, Matthew A Lines, et al.Journal of Inherited Metabolic Disease|April 16, 2015
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolismMarcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.Frontiers in Neuroscience|May 29, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.Pageof 18