Related Experiment Video

Updated: Sep 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.1K

Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome

Shu-Fang Wang1, Ting Zhou2, Meng-Ru Du2

  • 1Department of Endocrinology, Caoxian People's Hospital of Heze, 274400, China.

Asian Journal of Surgery
|March 13, 2022
PubMed
Abstract

No abstract available in PubMed .

Keywords:
CYP27B1 geneGene mutationVDDR IA

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

Related Experiment Videos

Last Updated: Sep 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.1K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

85.8K
Overview
85.8K

Articles linked to this work by shared authors, journal, and citation graph.

Development and validation of predictive models for the hemodialysis adequacy index (Kt/V) using multiple linear regression and machine learning algorithms.

Frontiers in digital health·2026

From fibrosis regression to recompensation: bibliometric and clinical evidence mapping of disease modification in cirrhosis.

Frontiers in medicine·2026

Disaster Exposure and Postpartum Caregiving: Breastfeeding and Rooming-In After the 2024 Hualien Earthquake.

Journal of human lactation : official journal of International Lactation Consultant Association·2026

Unlocking 27.3% perovskite photovoltaics by interface-locked dual-molecule contact.

Science advances·2026

Inflammation-associated brain functional network topological disruption in female nurses with SWSD: associations with symptoms and transcriptomics.

Frontiers in immunology·2026

Challenges and Opportunities in Cronkhite-Canada Syndrome Research: A Bibliometric Analysis Based on the Web of Science Core Collection.

Medical science monitor : international medical journal of experimental and clinical research·2026

Impact of aging on hepatic reserve after preoperative portal vein embolization in hepatectomy for perihilar cholangiocarcinoma.

Asian journal of surgery·2024

Cryoablation versus microwave ablation in the treatment of hepatocellular carcinoma: A Systematic Review and meta-analysis.

Asian journal of surgery·2024

The Transposon Toolkit for Immune Isoform Diversity in Evolution and Disease.

Viruses·2026

Congenital Hyperinsulinism in the Era of Precision Medicine: Genetically Driven Diagnosis and Novel Therapies.

Children (Basel, Switzerland)·2026

Antioxidant Strategies for Inherited Retinal Degenerations in the Era of Gene Therapy.

Antioxidants (Basel, Switzerland)·2026

Study of Population-Differentiated Single-Nucleotide Variants in Human Immunoglobulin Loci Using Short-Read Sequencing Data.

Genes·2026

Genetic Testing in Irritable Bowel Syndrome.

Gastroenterology clinics of North America·2026

Genetics of Inflammatory Bowel Disease-What is Unsought Goes Undetected.

Gastroenterology clinics of North America·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us