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Publication date
2016 Feb 04
Authors
Reijnders, MRF Zachariadis, V Latour, B Jolly, L Mancini, GM Pfundt, R Wu, KM van Ravenswaaij-Arts, CMA Veenstra-Knol, HE Anderlid, BMM Wood, SA Cheung, SW Barnicoat, A Probst, F Magoulas, P Brooks, AS Malmgren, H Harila-Saari, A Marcelis, CM Vreeburg, M Hobson, E Sutton, VR Stark, Z Vogt, J Cooper, N Lim, JY Price, S Lai, AHM Domingo, D Reversade, B Gecz, J Gilissen, C Brunner, HG Kini, U Roepman, R Nordgren, A Kleefstra, T
Group authors
DDD Study
Author KI Usernames
Harila-Saari, A|arjhar Malmgren, H|helmal Nordgren, A|annord Zachariadis, V|vaszac
Pubmed ID
26833328
Journal
American journal of human genetics
Doctype
Article
KI Connection
Medel
Mesh SV
Barn Bassekvens Fenotyp Förskolebarn Gener, X-bundna Gentester Intellektuell funktionsnedsättning Koanalatresi Kvinnlig Molekylsekvensdata Mutation Människa Ubikitintiolesteras Unga vuxna Ungdomar Utvecklingsstörningar X-kromosominaktivering
Mesh EN
Base Sequence Choanal Atresia Developmental Disabilities Genes, X-Linked Genetic Testing Intellectual Disability Molecular Sequence Data Mutation Phenotype Ubiquitin Thiolesterase X Chromosome Inactivation
First date
2016-03-06T10:17:14.737Z