Associated Papers
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Mederer T et al.
Plos Genetics, 2020
33151932 (PubMed )
Supplement: pgen.1009106.s007.pdf
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.
Morita M et al.
Jimd Reports, 2013
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