1.
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
by Schwartz, Charles E
American journal of human genetics, 2005, Vol.77 (1), p.41-53
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3.
The Choice of Normative Pediatric Reference Database Changes Spine Bone Mineral Density Z-Scores But Not the Relationship Between Bone Mineral Density and Prevalent Vertebral Fract...
by Ma, Jinhui
The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.1018-1027
4.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
by del Gaudio, Daniela
Genetics in medicine, 2006-12, Vol.8 (12), p.784-792
5.
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
by Hexter, Adam
Journal of Medical Genetics, 2015-10, Vol.52 (10), p.699-705
6.
Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders
by Consortium, The Simons Vip
Neuron (Cambridge, Mass.), 2012-03-22, Vol.73 (6), p.1063-1067
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