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Journal of Epidemiology, ISSN 0917-5040, 2016, Volume 26, Issue 9, pp. 493 - 511
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Journal Article
Human Genetics, ISSN 0340-6717, 2/2016, Volume 135, Issue 2, pp. 209 - 222
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2019, Volume 85, Issue 6, pp. 927 - 933
c‐Jun‐amino‐terminal kinase‐interacting protein 3 (JIP3), encoded by MAPK8IP3 , is an adaptor protein of the kinesin‐1 complex and essential for axonal... 
JIP3 | AXONAL-TRANSPORT | MUTATIONS | RILP | NEUROSCIENCES | CLINICAL NEUROLOGY | Hypoplasia | Phenotypes | Zebrafish | Kinases | Neurodevelopmental disorders | Embryos | Corpus callosum | Proteins | Atrophy | Axons | Lateral line | Coding | Axonal transport | Kinesin
Journal Article
The Journal of Biochemistry, ISSN 0021-924X, 02/2019, Volume 165, Issue 2, pp. 139 - 158
Journal Article
Human genome variation, ISSN 2054-345X, 2019, Volume 6, Issue 1, pp. 27 - 18
In recent genome analyses, population-specific reference panels have indicated important. However, reference panels based on short-read sequencing data do not... 
Genomes
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 11/2018, Volume 63, Issue 11, pp. 1139 - 1147
Several biobanks have begun returning genetic results to individuals, making the development of public genetic literacy an urgent task for their effective use.... 
BIOBANK | PROJECT | ATTITUDES | GENETICS & HEREDITY | Education | Human Genetics - education | Humans | Middle Aged | Adult | Female | Genetic Diseases, Inborn | Male | Surveys and Questionnaires | Aged | Knowledge | Patient Education as Topic
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2019, Volume 56, Issue 2, pp. 89 - 95
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the... 
Kdm6a | Kmt2d | kabuki syndrome | kabuki make-up syndrome | consensus diagnostic criteria | KMT2D | MAKE-UP-SYNDROME | MUTATIONS | EARS | GENETICS & HEREDITY | KDM6A | Genotype & phenotype | Eyelid | Congenital defects | Intellectual disabilities | Genes | DNA methylation | Diagnosis | Mutation | Genetic screening
Journal Article
Nihon rinsho. Japanese journal of clinical medicine, ISSN 0047-1852, 08/2010, Volume 68 Suppl 8, p. 305
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Journal Article