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European journal of human genetics, ISSN 1018-4813, 2016, Volume 24, Issue 1, pp. 2 - 5
We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Disease | Laboratories | Diagnostic tests | Quality control | Genetics | Genomes | Patients
Journal Article
Journal Article
Croatian Medical Journal, ISSN 0353-9504, 2014, Volume 55, Issue 1, p. 78
Journal Article
Croatian Medical Journal, ISSN 0353-9504, 02/2014, Volume 55, Issue 1, pp. 78 - 78
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 401 - 406
Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including... 
Chromatin | Missense mutation | X chromosome | Blepharophimosis | Mental retardation | Geriatrics
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2019, Volume 56, Issue 10, pp. 654 - 661
BackgroundThis study evaluates 6 years of prenatal rasopathy testing in the Netherlands, updates on previous data and gives recommendations for prenatal... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 401 - 406
Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2014, Volume 22, Issue 4, pp. 480 - 485
We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID)... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 330 - 337
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 10/2019, Volume 10, Issue 1, pp. 1 - 17
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed... 
DE-NOVO MUTATIONS | MEMORY | ANNOTATION | MULTIDISCIPLINARY SCIENCES | GENES | FRAMEWORK | SYNAPTIC DEVELOPMENT | RESOURCE | Mental disorders | Drosophila | Epilepsy | Disorders | Glial cells | Neurodevelopmental disorders | Patients | Neuronal-glial interactions | Proteins | Autism | Mutation | Disruption | Postsynaptic density | Life Sciences | Genetics | Human genetics
Journal Article
17.