Related Experiment Video

Updated: Feb 22, 2026

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

26.5K

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

A Hotz1, C Fagerberg2, A Vahlquist3

  • 1Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

The British Journal of Dermatology
|September 15, 2017
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.3K
Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.9K

Related Experiment Videos

Last Updated: Feb 22, 2026

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

26.5K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.3K
Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

1.9K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

90.1K
Overview
90.1K

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

The International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria.

Allergy·2026

Gynaeco-obstetrical follow-up of patients with dystrophic epidermolysis bullosa, a prospective study.

Orphanet journal of rare diseases·2025

Short-term versus extended chemoprophylaxis against venous thromboembolism in DIEP flap breast reconstruction: A retrospective study of 424 patients.

Annales de chirurgie plastique et esthetique·2024

Syndromic ichthyoses.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V·2024

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Genes·2024

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024

HiSQOL-mini: Development and Validation of a Shortened Version of the Hidradenitis Suppurativa Quality of Life (HiSQOL) Instrument.

The British journal of dermatology·2026

Skin Microbiome Metabolism in Cutaneous Microenvironments: Implications for Skin Health and Disease.

The British journal of dermatology·2026

Genome-wide selection signatures in Ramlıç sheep identified by complementary ROH and iHS analyses.

Frontiers in veterinary science·2026

Promoter variation in BraHDAC1 modulates stomatal regulation and thermotolerance in Brassica rapa.

The Plant cell·2026

Novel LOX Start-Loss Variant Mimicking Arterial Tortuosity Syndrome in Neonatal Cutis Laxa: A Diagnostic Challenge.

Clinical genetics·2026

Development and Genomic Validation of a Population-Specific SNP Panel for Parentage Verification in Chinese Holstein Cattle.

International journal of molecular sciences·2026

Integrative Genomic Analyses Identify and Prioritize Candidate Loci for Metatarsal Length and Circumference in Broilers.

Animals : an open access journal from MDPI·2026

Development and Validation of a Prediction Model for Severe Male Pattern Baldness in Turkish Male Population Aged 50 Years and Older.

Genes·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