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Molecular Genetics and Metabolism|August 1, 2012
High prevalence of overweight and obesity in females with phenylketonuriaLindsay C Burrage, Judy McConnell, Rebecca Haesler, et al.
Clinical Genetics|December 18, 2019
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial featuresChristian Beetz, Najim Ameziane, Ameni Kdissa, et al.
American Journal of Medical Genetics. Part A|September 21, 2020
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndromeDavid D Schwartz, Rachel H Fein, Claudia M B Carvalho, et al.
American Journal of Medical Genetics. Part A|September 15, 2005
Facial and physical features of Aicardi syndrome: infants to teenagersV Reid Sutton, Bobbi J Hopkins, Tanya N Eble, et al.
Prenatal Diagnosis|February 22, 2002
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangementsKathryn D McGowan, Joseph J Weiser, Juli Horwitz, et al.
ASAIO Journal (American Society for Artificial Internal Organs : 1992)|June 20, 2012
Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemiaRyan J Stark, Bindi J Naik-Mathuria, Fong W Lam, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2-Related Mitochondrial DisorderVittoria Rossi, Dan Brooks, Hongzheng Dai, et al.
European Journal of Medical Genetics|April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisCarlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Pediatric Endocrinology Reviews : PER|October 28, 2014
State of the art review in hypospadias: challenges in diagnosis and medical managementMin-Jye Chen, Lefkothea P Karaviti, Charles G Macias, et al.
JIMD Reports|March 4, 2016
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat RestrictionsMarcus J Miller, Bret L Bostwick, Adam D Kennedy, et al.
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