Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development - Bergen - 2020 - Molecular Genetics & Genomic Medicine - Wiley Online Library
The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias | European Journal of Human Genetics
PDF) Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
Update on Allele Nomenclature for Human Cytochromes P450 and the Human Cytochrome P450 Allele (CYP-Allele) Nomenclature Database | SpringerLink
JoX | Free Full-Text | The Central Role of Cytochrome P450 in Xenobiotic Metabolism—A Brief Review on a Fascinating Enzyme Family | HTML
Current Awareness on Comparative and Functional Genomics – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Publications
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome | Nature Genetics
PDF) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
PDF) Human P450 Oxidoreductase Deficiency
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction in: European Journal of Endocrinology Volume 177 Issue 3 (2017)
The Curation of Genetic Variants: Difficulties and Possible Solutions – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Impact of POR variants on CYP3A4 activity. A pie chart showing the... | Download Scientific Diagram
The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
PDF) Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
The Adrenal
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype* - Journal of Biological Chemistry
Differential effects on human cytochromes P450 by CRISPR/Cas9-induced genetic knockout of cytochrome P450 reductase and cytochrome b5 in HepaRG cells | Scientific Reports
Proteogenomic studies in epithelial ovarian cancer: established knowledge and future needs | Biomarkers in Medicine
Publications
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction in: European Journal of Endocrinology Volume 177 Issue 3 (2017)
