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International journal of molecular sciences, ISSN 1422-0067, 09/2016, Volume 17, Issue 9, p. 1572
The author wishes to make a change to the published paper [1].[...]. 
n/a
Journal Article
1994, Volume 12, no. 4., x, p. 663-818.
Book
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1727 - 1731
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2013, Volume 15, Issue 5, pp. 399 - 407
The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic... 
tiered evaluations | Asperger syndrome | diagnostic yield | autism | pervasive developmental disorders | GENETICS & HEREDITY | Child Development Disorders, Pervasive - genetics | Child | Humans | Child Development Disorders, Pervasive - diagnosis | Index Medicus
Journal Article
International Journal of Molecular Sciences, ISSN 1422-0067, 01/2016, Volume 17, Issue 2, pp. 180 - 180
Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the... 
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2016, Volume 24, Issue 7, p. 1095
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 2017
Abstract We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and EMG... 
Pediatrics | Neurology
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 03/2010, Volume 17, Issue 1, pp. 5 - 6
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 03/2010, Volume 17, Issue 1, pp. 5 - 6
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 2010, Volume 17, Issue 1, pp. 5 - 6
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2013, Volume 110, Issue 9, pp. 3316 - 3320
Journal Article
Clinical Case Reports, ISSN 2050-0904, 07/2016, Volume 4, Issue 7, pp. 696 - 698
Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP 300 are causative. Few cases of EP 300 mutations are reported.... 
CREBBP | 300 | EP | Rubinstein–Taybi syndrome | whole exome sequencing | Expansion | Mutation
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 09/2008, Volume 15, Issue 3, p. 109
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 09/2008, Volume 15, Issue 3, p. 109
Journal Article
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