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Clinical Genetics, ISSN 0009-9163, 02/2018, Volume 93, Issue 2, pp. 378 - 381
Journal Article
2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), ISSN 1094-687X, 08/2015, Volume 2015-, pp. 169 - 172
Conference Proceeding
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1754 - 1762
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis.... 
BAF complex | exome analysis | SMARCA2 | ARID1B | facial dysmorphology analysis | COFFIN-SIRIS SYNDROME | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | CLINICAL EXOME | Face - abnormalities | Humans | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Foot Deformities, Congenital - genetics | Male | Craniofacial Abnormalities - physiopathology | Hand Deformities, Congenital - diagnosis | Hypotrichosis - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Muscular Atrophy - physiopathology | Facies | Foot Deformities, Congenital - physiopathology | Muscular Atrophy - diagnosis | Female | Nuclear Proteins - genetics | Neck - physiopathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Micrognathism - physiopathology | Micrognathism - genetics | Foot Deformities, Congenital - diagnosis | Muscular Atrophy - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Exome - genetics | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Mutation | Pathology, Molecular | Genetic research | Genes | Genetic aspects
Journal Article
Computer Methods and Programs in Biomedicine, ISSN 0169-2607, 2006, Volume 85, Issue 2, pp. 165 - 172
Journal Article
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2018, Volume 11070, pp. 347 - 355
Conference Proceeding
Journal Article
Journal Article
Current behavioral neuroscience reports, ISSN 2196-2979, 2017, Volume 4, Issue 4, p. 322
In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial... 
Journal Article
Current Behavioral Neuroscience Reports, ISSN 2196-2979, 12/2017, Volume 4, Issue 4, pp. 322 - 330
In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial... 
Neurology | Pediatrics | Geometric morphometrics | Medicine & Public Health | Asymmetry | Mouse models | 3D facial imaging | Craniofacial dysmorphology | Schizophrenia | Behavioral Therapy | Neurodevelopmental disorders | Psychiatry | Genetics and Neuroscience (C O’Tuathaigh, Section Editor)
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, p. e43067
Journal Article