Genetic Diagnosis - Genetic Mutations

Relevant Publications

Allele-specific PCR with fluorescently labeled probes: criteria for selecting primers for genotyping.

Issue Release: 2024

Inflammatory myofibroblastic tumor from molecular diagnostics to current treatment.

Issue Release: 2024

Necroptosis and immune infiltration in hypertrophic cardiomyopathy: novel insights from bioinformatics analyses.

Issue Release: 2024

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.

Issue Release: 2024

Inferior Laryngeal Nerve Paraganglioma With Norepinephrine Hypersecretion Diagnosed Shortly After Pregnancy.

Issue Release: 2024

Circulating cell-free (cf)DNA analysis: Current technologies and applications in gynecologic cancer.

Issue Release: 2024

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.

Issue Release: 2024

Surgical Management and Long-Term Evaluation of Pancreatic Neuroendocrine Tumors.

Issue Release: 2024

Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.

Issue Release: 2024

[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome].

Issue Release: 2024

[Sperm Mosaic Variants and Their Influence on the Offspring].

Issue Release: 2024

Enzyme-powered, label-free DNA walker for Uracil-DNA glycosylase detection at single-cell level.

Issue Release: 2024

An Exploratory Approach of Clinically Useful Biomarkers of Cvid by Logistic Regression.

Issue Release: 2024

Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.

Issue Release: 2024

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Issue Release: 2024

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.

Issue Release: 2024

Anthropometric traits and risk of multiple myeloma: differences by race, sex and diagnostic clinical features.

Issue Release: 2024

The metabolome-wide signature of major depressive disorder.

Issue Release: 2024

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Issue Release: 2024

Diagnosis and treatment of Parkinson´s disease (guideline of the German Society for Neurology).

Issue Release: 2024

How Are Translocations Diagnosed?

How Are Mutagens Detected?

What are Viral Vectors?

How do TALENs work?

Are All Tobacco Products Equally Harmful?

What Challenges Exist in Using Genetic Information for Medication Management?

What is a Mutation?

How Does Genetics Influence Occupational Therapy?

How is the Delta F508 Mutation Inherited?

Why is Third Generation Sequencing Important for Genetic Mutations?

Partnered Content Networks

Relevant Topics