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Journal of human genetics, 09/2019
Thiamine metabolism dysfunction syndrome-4 (THMD4) includes episodic encephalopathy, often associated with a febrile illness, causing transient neurologic... 
Journal Article
STEM CELLS, ISSN 1066-5099, 05/2014, Volume 32, Issue 5, pp. 1239 - 1253
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1970 - 1974
The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia,... 
19q13.32 | developmental delay | copy number variation | SNPs array | microdeletion | GENETICS & HEREDITY | Literature reviews | Penis
Journal Article
Gene, ISSN 0378-1119, 07/2014, Volume 545, Issue 2, pp. 290 - 292
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2018, Volume 26, Issue 1, pp. 85 - 93
Journal Article
Gene, ISSN 0378-1119, 07/2015, Volume 565, Issue 1, pp. 146 - 149
Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated... 
Disability | Deletion | CNV | CTNND2 | Intellectual | DELTA-CATENIN | MENTAL-RETARDATION | GENE | GENETICS & HEREDITY | DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Oligonucleotide Array Sequence Analysis | Gene Deletion | Humans | Karyotyping | Intellectual Disability - pathology | Male | Catenins - genetics | Chromosomes, Human, Pair 5 - genetics | Intellectual Disability - genetics | Chromosomes
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2010, Volume 47, Issue 6, pp. 429 - 432
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2010, Volume 18, Issue 2, pp. 163 - 170
Journal Article