Associated Papers
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM1_ESM.pdf
Differential diagnosis of hereditary nephrogenic diabetes insipidus with desmopressin infusion test.
Bircan Z et al.
Indian Journal of Pediatrics, 2010
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