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The American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 579 - 583
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2017, Volume 19, Issue 1, pp. 45 - 52
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 744 - 753
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2018, Volume 84, Issue 5, pp. 788 - 795
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019
Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2016, Volume 24, Issue 5, pp. 652 - 659
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2019, Volume 104, Issue 2, pp. 319 - 330
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, p. 744
  Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor... 
Genetic disorders | Pathogenesis | Genetics | Mutation
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2016, Volume 170, Issue 3, pp. 670 - 675
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, p. 579
  5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the... 
Proteins | Genotype & phenotype | Neurology | Epilepsy | Genes | Mutation
Journal Article