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1دورية أكاديمية
المؤلفون: Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW
المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Dec; Vol. 20 (12), pp. 1240-7. Date of Electronic Publication: 2012 May 23.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Gene Deletion* , Genotype* , Phenotype*, Cell Adhesion Molecules, Neuronal/*genetics , Exons/*genetics , Intellectual Disability/*diagnosis , Intellectual Disability/*genetics , Nerve Tissue Proteins/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Calcium-Binding Proteins ; Child ; Child Development Disorders, Pervasive/diagnosis ; Child Development Disorders, Pervasive/genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Introns ; Male ; Microarray Analysis ; Muscle Hypotonia/congenital ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Neural Cell Adhesion Molecules ; Protein Isoforms/genetics
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2دورية أكاديمية
المؤلفون: Cosemans, Nele, Vandenhove, Laura, Vogels, Annick, Devriendt, Koenraad, Van Esch, Hilde, Van Buggenhout, Griet, Olivié, Hilde, De Ravel, Thomy, Ortibus, Els, Legius, Eric, Aerssens, Peter, Breckpot, Jeroen, Vermeesch, Joris R., Sanbing Shen, Fitzgerald, Jacqueline, Gallagher, Louise, Peeters, Hilde
المصدر: Journal of Medical Genetics; May2020, Vol. 57 Issue 5, p347-355, 9p
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3كتاب إلكتروني
المؤلفون: S. Hossein Fatemi
نوع المادة: eBook.
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4دورية أكاديمية
المؤلفون: Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Baena, Neus, Ribas-Vidal, Núria, Ruiz, Anna, Torrents-Rodas, David, Gabau, Elisabeth, Vilella, Elisabet, Martorell, Lourdes, Armengol, Lluís, Novell, Ramon, Guitart, Míriam
المصدر: Behavior Genetics; Jul2018, Vol. 48 Issue 4, p323-336, 14p
مصطلحات موضوعية: INTELLECTUAL disabilities, PATHOLOGICAL psychology, COMORBIDITY, CHROMOSOMES, GENOMICS
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5دورية أكاديمية
المؤلفون: Wallis, Mathew, Tsurusaki, Yoshinori, Burgess, Trent, Borzi, Peter, Matsumoto, Naomichi, Miyake, Noriko, True, Deanna, Patel, Chirag
المصدر: American Journal of Medical Genetics. Part A; Mar2016, Vol. 170A Issue 3, p717-724, 8p
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6دورية أكاديمية
المؤلفون: Barnett, C. P., van Bon, B. W. M.
المصدر: Journal of Medical Genetics; Nov2015, Vol. 52 Issue 11, p719-729, 11p
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7دورية أكاديمية
المؤلفون: Hua, Rui, Wei, MengPing, Zhang, Chen
المصدر: SCIENCE CHINA Life Sciences; Oct2015, Vol. 58 Issue 10, p933-945, 13p
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8دورية أكاديمية
المصدر: American Journal of Medical Genetics. Part A; Sep2015, Vol. 167A Issue 9, p2145-2149, 5p
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9دورية أكاديمية
المؤلفون: Matsunami, Nori, Hensel, Charles H., Baird, Lisa, Stevens, Jeff, Otterud, Brith, Leppert, Tami, Varvil, Tena, Hadley, Dexter, Glessner, Joseph T., Pellegrino, Renata, Kim, Cecilia, Thomas, Kelly, Wang, Fengxiang, Otieno, Frederick G., Ho, Karen, Christensen, Gerald B., Dongying Li, Prekeris, Rytis, Lambert, Christophe G., Hakonarson, Hakon
المصدر: Molecular Autism; 2014, Vol. 5 Issue 1, p3-40, 38p
مصطلحات موضوعية: NUCLEOTIDE sequence, AUTISM spectrum disorders, DISEASE prevalence, DNA copy number variations, NEUROANATOMY
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10دورية أكاديمية
المؤلفون: Smoller, Jordan W.
المصدر: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics; Oct2013, Vol. 162B Issue 7, p559-578, 20p