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BMC Medicine|April 26, 2017
Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetesRajashree Mishra, Alessandra Chesi, Diana L Cousminer, et al.
Molecular Autism|November 5, 2011
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in malesRen-Hua Chung, Deqiong Ma, Kai Wang, et al.
Human Molecular Genetics|December 25, 2012
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American childrenJin Li, Joseph T Glessner, Haitao Zhang, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
American Journal of Medical Genetics. Part A|July 22, 2021
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequenceTara L Wenger, Jonathan Perkins, Julia Parish-Morris, et al.
JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren S Akesson, Rocio Rius, Natasha J Brown, et al.
Orphanet Journal of Rare Diseases|December 11, 2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathyBerta Almoguera, Sijie He, Marta Corton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathiesDana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Neuroimage|April 4, 2015
The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youthTheodore D Satterthwaite, John J Connolly, Kosha Ruparel, et al.
JAMA Neurology|March 31, 2025
N-Acetylcysteine for Hereditary Cystatin C Amyloid Angiopathy: A Nonrandomized Clinical TrialAsbjorg Osk Snorradottir, Alvaro Gutierrez-Uzquiza, Paloma Bragado, et al.
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