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المؤلفون: Michael E. Talkowski, Blake C. Ballif, Roger A. Schultz, Patricia I. Bader, Susan Sell, Zheng Fan, James F. Gusella, Debra J Keelean-Fuller, Suneeta Madan-Khetarpal, Loren Mackay-Loder, Deborah Terespolsky, Urvashi Surti, Jill Pouncey, Santhosh Girirajan, Marilyn C. Jones, Bénédicte Héron‐Longe, Ian Blumenthal, Kenneth N. Rosenbaum, Maria Descartes, Jill A. Rosenfeld, Cynthia C. Morton, Evan E. Eichler, Gwen M. Glew, Alain Verloes, Amy Shealy, Sandrine Passemard, Brigitte Benzacken, Cathy A. Stevens, Eva Pipiras, Nicholas J. Neill, Roger L. Ladda, Rocio Moran, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Judith A. Martin, Stephanie E. Vallee, Kent E. Opheim, Juliann Mcconnell, Bertrand Isidor, Andrée Delahaye, Cédric Le Caignec, Shawnia Ryan
المصدر: Human Mutation. 33:728-740
مصطلحات موضوعية: Adult, Male, Adolescent, Developmental Disabilities, Haploinsufficiency, Biology, Article, Exon, Intellectual disability, Genetics, medicine, Humans, Language Development Disorders, Child, Gene, Genetics (clinical), Chromosomes, Human, Pair 12, Mental Disorders, Breakpoint, Body Dysmorphic Disorders, medicine.disease, Phenotype, Case-Control Studies, Child, Preschool, Body dysmorphic disorder, Speech delay, Female, medicine.symptom, SOXD Transcription Factors
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المؤلفون: Darcy Knowles, Cathy A. Stevens, Jill Pouncey
المصدر: American Journal of Medical Genetics Part A. 155:1680-1684
مصطلحات موضوعية: Adult, Male, Activities of daily living, Adolescent, MEDLINE, Short stature, Education, Young Adult, Surveys and Questionnaires, Activities of Daily Living, Genetics, medicine, Humans, Young adult, Genetics (clinical), Aged, Rubinstein-Taybi Syndrome, Behavior, Rubinstein–Taybi syndrome, Social Behavior Disorders, Geneticist, Middle Aged, medicine.disease, Obesity, Phenotype, Female, medicine.symptom, Psychology, Medical literature, Clinical psychology
