Yearly Publication Trends - genetic diagnosis

Year	Publication Count
2024	6217
2023	11487
2022	6566
2021	5217
2020	3977
2019	2357
2018	1411
2017	1293
2016	1196
2015	908
2014	961

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

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How is DNA Methylation Studied in Population-Based Research?

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What Are the Key Ethical Considerations?

How Do Social Determinants Affect Mechanisms?

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How Can Radon Levels be Reduced?

How Can Epidemiological Data Improve EmOC Services?

What is Tracking in Epidemiology?

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