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Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
Acta Paediatrica, ISSN 0803-5253, 04/2011, Volume 100, Issue 4, pp. 629 - 630
Journal Article
Journal Article
Acta Paediatrica, ISSN 0803-5253, 11/2019, Volume 108, Issue 11, pp. 2019 - 2026
Aim To analyse levels and profiles of autism symptoms in children with Down Syndrome (DS) with and without diagnosed autism spectrum disorder (ASD) and to... 
Down Syndrome | Behavioural phenotype | Intellectual Disability | Autism spectrum disorder | Domains | Autism | Schedules | Algorithms | Down's syndrome | Diagnostic systems | Down syndrome | Children
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, p. e85313
In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E... 
HETEROTAXY | ESOPHAGEAL ATRESIA | MULTIDISCIPLINARY SCIENCES | CHD7 GENE | DISORDERS | PATIENT | IDENTIFICATION | FANCONI-ANEMIA | Limb Deformities, Congenital - genetics | Translocation, Genetic | Genetic Testing | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Base Sequence | Female | Fetus | DNA Helicases - genetics | Trachea - abnormalities | Amino Acid Sequence | Gene Expression | Fanconi Anemia Complementation Group Proteins - genetics | Gene Dosage | DNA-Binding Proteins - genetics | Esophagus - abnormalities | Hemizygote | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Comparative Genomic Hybridization | Kidney - abnormalities | Heart Defects, Congenital - diagnosis | Cytogenetics | Genetic aspects | Comparative analysis | Health aspects | Genes | Pediatrics | Laboratories | Childrens health | Hybridization | Gene deletion | Defects | Genotype & phenotype | Ultrasonic imaging | Alterations | Clonal deletion | Etiology | Surgery | Deletion | Genetics | Heart diseases | Drug dosages | Deoxyribonucleic acid--DNA | Translocation | Vertebrae | Congenital diseases | Kidneys | Deformation mechanisms | Anemia | Fetuses | Fistulae | Anorectal | Gene expression | Medical screening | Patients | Esophagus | Children & youth | Medicine | Studies | Screening | Pathology | Hospitals | DNA microarrays | Genetic counseling | Mutation | Kidney transplantation | Medical and Health Sciences | Medicin och hälsovetenskap | Deoxyribonucleic acid | DNA
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 10730 - 11
The TATA-box binding protein associated factor 1 (TAF1) protein is a key unit of the transcription factor II D complex that serves a vital function during... 
INACTIVATION | MENTAL-RETARDATION | VARIANTS | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | CANDIDATE GENE | WHOLE-EXOME | MUTATIONS | LINKED DYSTONIA-PARKINSONISM | EXPRESSION | GENOME | Zebrafish | Embryogenesis | TATA-binding protein | Neurodevelopmental disorders | Gene expression | Intellectual disabilities
Journal Article
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 3, pp. 195 - 202
Journal Article