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Nature Neuroscience, ISSN 1097-6256, 11/2018, Volume 21, Issue 11, pp. 1504 - 1514
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 8, pp. 733 - 743
Journal Article
Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Journal Article
Cell Reports, ISSN 2211-1247, 12/2017, Volume 21, Issue 13, pp. 3754 - 3766
Journal Article
Nature Neuroscience, ISSN 1097-6256, 09/2017, Volume 20, Issue 9, pp. 1217 - 1224
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 606 - 612
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 02/2019, Volume 489, pp. 103 - 108
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder. Although most patients present with isolated CH, some patients present with CH... 
Whole exome sequencing | KCNQ1 | ASXL3 | Congenital hypothyroidism | GLIS3 | Chromosomal microarray | NKX2-5 | Extra-thyroidal congenital malformations | DUOX2 | VARIANTS | ANOMALIES | PREVALENCE | PAX8 | MUTATION | COHORT | MEDICAL LABORATORY TECHNOLOGY | CHINESE PATIENTS | PERMANENT
Journal Article