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Journal Article
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 9, pp. 1055 - 1063
Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or... 
pediatric neurology | Prospective Clinical Utility Study | whole-exome sequencing | diagnostic yield | health-care resource use | DIAGNOSIS | RARE DISEASES | VARIANTS | CONSENSUS | DISORDERS | INTELLECTUAL DISABILITY | INCIDENTAL FINDINGS | COST | GENETICS & HEREDITY | MUTATIONS | PARTICIPANTS | Neurology | Pediatrics | Original
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2013, Volume 84, Issue 6, pp. 539 - 545
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2009, Volume 46, Issue 9, pp. 598 - 606
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 9, pp. 1176 - 1185
textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental,... 
16Q24.3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | COGNITIVE IMPAIRMENT | PATIENT | IDENTIFICATION | GENOME | DELETION | HAPLOINSUFFICIENCY | Abnormalities, Multiple - pathology | Tooth Abnormalities - diagnosis | Humans | Middle Aged | Autism Spectrum Disorder - complications | Child, Preschool | Intellectual Disability - complications | Male | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - pathology | Intellectual Disability - genetics | Exome | DNA Mutational Analysis | Tooth Abnormalities - complications | Gene Deletion | Facies | Adult | Female | Bone Diseases, Developmental - complications | Bone Diseases, Developmental - diagnosis | Child | Abnormalities, Multiple - genetics | Autism Spectrum Disorder - diagnosis | Autism Spectrum Disorder - genetics | Gene Expression | Tooth Abnormalities - genetics | Intellectual Disability - pathology | Repressor Proteins - genetics | Genotype | Autism Spectrum Disorder - pathology | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Chromosomes, Human, Pair 16 | Tooth Abnormalities - pathology | Phenotypes | Hyperactivity | Teeth | Genomes | Neurodevelopmental disorders | Patients | Hip | Hearing loss | Autism | Genotype & phenotype | Hearing | Nose | Phenotyping | Incisors | Genetics | Children | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article