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Science, ISSN 0036-8075, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
Science, ISSN 0036-8075, 10/2012, Volume 338, Issue 6105, pp. 394 - 397
Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available... 
Phenotypes | Autistic disorder | Diet | Branched chain amino acids | Epilepsy | REPORTS | Stem cells | Amino acids | Pluripotent stem cells | Genetic mutation | Blood plasma | SYRUP-URINE-DISEASE | DEHYDROGENASE KINASE | TRANSPORT | METABOLISM | AMINO-ACIDS | MULTIDISCIPLINARY SCIENCES | MICE | EXPRESSION | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - administration & dosage | Autistic Disorder - diet therapy | Phosphorylation | Humans | Child, Preschool | Molecular Sequence Data | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - deficiency | Male | RNA, Messenger - metabolism | Epilepsy - diet therapy | Intellectual Disability - genetics | Brain - metabolism | Young Adult | Amino Acids, Branched-Chain - administration & dosage | Autistic Disorder - enzymology | Arginine - genetics | Base Sequence | Intellectual Disability - enzymology | Epilepsy - genetics | Female | Child | Intellectual Disability - diet therapy | Autistic Disorder - genetics | Epilepsy - enzymology | Protein Structure, Tertiary | Protein Folding | Mice, Knockout | Homozygote | Animals | Pedigree | Adolescent | 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - genetics | Mice | Mutation | Amino Acids, Branched-Chain - blood | Amino Acids, Branched-Chain - deficiency | Autism | Care and treatment | Gene mutations | Genetic aspects | Properties | Identification and classification | Genes | Mutations | Disabilities | Kinases | Patients
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 123 - 129
Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X‐linked dominant, in utero male‐lethal disease, characterized by... 
smooth muscle hamartoma | TODPD | hypopigmented patch | filamin A | digital fibroma | GENETICS & HEREDITY | FILAMIN | FOCAL DERMAL HYPOPLASIA | Dysplasia | Phenotypes | Splicing | Scalp | Bone dysplasia | Smooth muscle | Skeleton | Skin | Children | Neoplasia | Defects | Ossification
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1032 - 1036
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2011, Volume 43, Issue 3, pp. 189 - 196
Journal Article
Mechanisms of Development, ISSN 0925-4773, 07/2017, Volume 145, pp. S32 - S32
Journal Article
by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 528 - 534
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article