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Desmosterolosis
Estrogen Receptor-Mediated Neuroprotection: the Role of the Alzheimer’S Disease-Related Gene Seladin-1
Table S1. Disease Classification and Disease-Reaction Association
Effects of DHCR24 Depletion in Vivo and in Vitro
Prenatalscreen® Standard Technical Report
Steroidal Triterpenes of Cholesterol Synthesis
Disorders of Cholesterol Biosynthesis
Smith–Lemli–Opitz Syndrome: Pathogenesis, Diagnosis and Management
Download CGT Exome V2.0
Androgen Receptor Regulation of the Seladin-1/DHCR24 Gene: Altered Expression in Prostate Cancer
Seladin-1 Is a Fundamental Mediator of the Neuroprotective Effects of Estrogen in Human Neuroblast Long-Term Cell Cultures
Smith-Lemli-Opitz Syndrome
Expanded Carrier Screening: a Current Perspective
30 Inborn Errors of Cholesterol Biosynthesis Dorothea Haas, Richard I
REVIEW Neuroprotective Effects of the Alzheimer's Disease-Related Gene Seladin-1
Cholesterol in Childhood: Friend Or Foe?
Biallelic Pathogenic Variants in the Lanosterol Synthase Gene LSS
Connective Tissue Disorders
JMSCR Vol||06||Issue||04||Page 1251-1260||April 2018
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Seladin-1 Expression in Rat Adrenal Gland: Effect of Adrenocorticotropic Hormone Treatment
Impact of Sex and Age on the Mevalonate Pathway in the Brain: a Focus on Effects Induced by Maternal Exposure to Exogenous Compounds
Current Issues Regarding Prenatal Diagnosis of Inborn Errors of Cholesterol Biosynthesis
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Disorders of Sterol Biosynthesis
The Significance of Enzyme 3Β-Hydroxysterol-Δ24 Reductase in Cholesterol Biosynthesis and Steroidogenesis: an in Vitro Model to Study Desmosterolosis
Malformation Syndromes Caused by Disorders of Cholesterol Synthesis
Greenberg Dysplasia (HEM)
A Genomic Atlas of Human Adrenal and Gonad Development [Version 1; Referees: Awaiting Peer Review] Ignacio Del Valle1, Federica Buonocore1, Andrew J
Newborndxtm Advanced Sequencing Evaluation Disorders List
Estrogen and Selective Estrogen Receptor Modulators Exert
Cholesterol Biosynthesis in the Nervous System with an Emphasis on Desmosterolosis
Review Article the Smith-Lemli-Opitz Syndrome
An Atomic-Level Perspective of HMG-Coa-Reductase
Cholesterol Precursors and Facial Clefting
Differences of Sex Development
The Desmosterolosis Phenotype: Spasticity, Microcephaly and Micrognathia with Agenesis of Corpus Callosum and Loss of White Matter
Table S4. Disease Prevalence
Condition. This Test Is Only Looking at Mutations Inherited in an Autosomal Recessive Fashion Where 2 Mutations Are Needed to Cause Disease
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Interactions of Aromatase and Seladin-1
Malformation Syndromes Due to Inborn Errors of Cholesterol Synthesis
Loss of Mevalonate/Cholesterol Homeostasis in the Brain: a Focus on Autism Spectrum Disorder and Rett Syndrome
Comparative Effects of DHEA and DHT on Gene Expression in Human Lncap Prostate Cancer Cells
Novel Functions of Hydroxysteroid (17B) Dehydrogenases As Revealed by Genetically Modified Mouse Models
Desmosterolosis Presenting with Multiple Congenital Anomalies
Recessive Gene List V2.0