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Cytochrome b5 deficiency
1 Accepted Preprint First Posted on 4 July 2018 As Manuscript EJE-18
Integrating Clinical and Genetic Approaches in the Diagnosis of 46,XY Disorders of Sex Development
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Structural Basis of Inter-Domain Electron Transfer in Ncb5or, a Redox Enzyme Implicated in Diabetes and Lipid Metabolism
Prenatal Diagnosis of Congenital Adrenal Hyperplasia
The Laboratory in the Multidisciplinary Diagnosis of Differences Or
Chapter 2 General Introduction
The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
Approaches to Molecular Genetic Diagnosis in the Management Of
Rare Defects in Adrenal Steroidogenesis
Defects of Steroidogenesis A
Molecular Regulation of Adrenal Androgen Biosynthesis
Integrating Clinical and Genetic Approaches in the Diagnosis of 46,XY Disorders of Sex Development
The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
Final Publishable Summary Report Page 2
(DSD): Position Paper Of
Approaches to Molecular Genetic Diagnosis in the Management of Differences/Disorders of Sex Development (DSD): Position Paper of EU COST Action BM 1303 "Dsdnet"
Prenatal Diagnosis of Congenital Adrenal
Top View
Table S4. Disease Prevalence
Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused By
The Laboratory in the Multidisciplinary Diagnosis of Differences Or
Disease ID Disorder Name Gene Symbols OMIM ID