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Otology & Neurotology, ISSN 1531-7129, 07/2018, Volume 39, Issue 6, pp. 732 - 738
OBJECTIVES:The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next... 
Cochlear implant | Congenital deafness | Sequencing | Next generation | Sensorineural hearing loss | COCHLEAR IMPLANTATION | VARIANTS | CLINICAL NEUROLOGY | PREDICTION | HEARING-LOSS | OTORHINOLARYNGOLOGY | COHORT | OUTCOMES | MUTATIONS | Research | Nucleotide sequencing | Causes and theories of causation | DNA sequencing | Diseases
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2016, Volume 170, Issue 6, pp. i - i
The cover image, by Wim Van Hul et al., is based on the Original Article Further delineation of facioaudiosymphalangism syndrome: Description of a family with... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2016, Volume 170, Issue 6, pp. 1479 - 1484
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2014, Volume 22, Issue 11, pp. 1272 - 1277
Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2014, Volume 22, Issue 11, p. 1340
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Journal Article
Human Mutation, ISSN 1059-7794, 01/2011, Volume 32, Issue 1, pp. E1985 - E1998
Legius syndrome presents as an autosomal dominant condition characterized by cafe-au-lait macules with or without freckling and sometimes a Noonan-like... 
Journal Article
Human Mutation, ISSN 1059-7794, 08/2016, Volume 37, Issue 8, pp. 812 - 819
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 01/2011, Volume 52, Issue 1, pp. 324 - 333
PURPOSE. Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior... 
Journal Article
Pediatrics, ISSN 0031-4005, 06/2008, Volume 121, Issue 6, pp. 1119 - 1126
OBJECTIVE. The goal was to clarify the audiologic aspects and causes of congenital hearing loss in children who failed universal neonatal hearing screening.... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Life Sciences | Human genetics
Journal Article
American Journal of Medical Genetics Part c : Seminars in Medical Genetics, ISSN 1552-4868, 2014, Volume 166, Issue 3, pp. 315 - 326
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2009, Volume 17, Issue 3, pp. 319 - 328
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The... 
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 05/2013, Volume 163, Issue 2, pp. 92 - 105
Journal Article