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American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1299 - 1303
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... 
TG | 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 | Index Medicus
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 8, pp. 733 - 743
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2018, Volume 16, pp. 15 - 19
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in... 
Multiple acyl-CoA dehydrogenase deficiency | ETFDH | Riboflavin | ETF-QO | Glutaric aciduria II | SITE | PHENOTYPE | ACIDURIA TYPE-II | FIBROBLASTS | COENZYME-Q10 DEFICIENCY | GENE | ELECTRON-TRANSFER FLAVOPROTEIN | MADD | GENETICS & HEREDITY | CHINESE PATIENTS
Journal Article
Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Journal Article
Clinica chimica acta; international journal of clinical chemistry, 11/2018, Volume 489, p. 103
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder. Although most patients present with isolated CH, some patients present with CH... 
Journal Article
Nature Neuroscience, ISSN 1097-6256, 09/2017, Volume 20, Issue 9, pp. 1217 - 1224
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 606 - 612
Journal Article