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Intellectual disability

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

Suzanne I. M. Alsters, Anthony P. Goldstone, [ ... ], Alexandra I. F. Blakemore

Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L

Rebecca A. Nebel, Jill Kirschen, [ ... ], Brett S. Abrahams

Reference Values of Grip Strength Measured with a Jamar Dynamometer in 1526 Adults with Intellectual Disabilities and Compared to Adults without Intellectual Disability

Antonio Cuesta-Vargas, Thessa Hilgenkamp

Trends in the Prevalence of Autism Spectrum Disorder, Cerebral Palsy, Hearing Loss, Intellectual Disability, and Vision Impairment, Metropolitan Atlanta, 1991–2010

Kim Van Naarden Braun, Deborah Christensen, [ ... ], Marshalyn Yeargin-Allsopp

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

Ying F. Liu, Sarah M. Sowell, [ ... ], Anand K. Srivastava

Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan

Madiha Kanwal, Saadia Alyas, [ ... ], Kehkashan Mazhar

A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability

Xiuhong Pang, Huajie Luo, [ ... ], Tao Yang

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

Monique Albersen, Marjolein Bosma, [ ... ], Nanda M. Verhoeven-Duif

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

Anna Duarri, Esther A. R. Nibbeling, [ ... ], Dineke S. Verbeek

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan, Cindy Skinner, [ ... ], Tao Wang

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, [ ... ], Marcelo A. Kauffman

Early Mortality and Primary Causes of Death in Mothers of Children with Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study

Jenny Fairthorne, Geoff Hammond, [ ... ], Helen Leonard

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

Gabriel A. Lazarin, Felicia Hawthorne, [ ... ], Imran S. Haque

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