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Case report

First published 2023-7

A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report

Wafaa Bouzroud, Amal Tazzite, Ikhlass Boussakri [...]

Journal of International Medical Research

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Brief report

First published 2020-03

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants

Jiao Fu, Manassawee Korwutthikulrangsri, Leigh Ramos-Platt [...]

Thyroid®

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Research article

First published 2020-12

The Postmortem Interpretation of Cardiac Genetic Variants of Unknown Significance in Sudden Death in the Young: A Case Report and Review of the Literature

Saleh Fadel, Alfredo E. Walker

Academic Forensic Pathology

Open access

Case report

First published 2024

A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report

Teresa Trinka, Mohammed Faizan

Sage Open Medical Case Reports

Open access

Case report

First published 2023

Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma

Inès Debbabi, Sophie Vacher, Cindy Neuzillet [...]

Therapeutic Advances in Medical Oncology

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Research article

First published 2025-9

Molecular Characterization of Vascular Transformation of Lymph Node Sinuses via Oncomine Comprehensive Assay

Shaymaa Hegazy, Rana Naous

International Journal of Surgical Pathology

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Case report

First published 2018-1

Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing

Nutsuchar Wangtiraumnuay, Jenina Capasso, Mai Tsukikawa [...]

European Journal of Ophthalmology

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Research article

First published 2025-6

Hearing Loss Secondary to TECTA Gene Mutations

Rocío González-Aguado, Esther Onecha, Jaime Gallo-Terán [...]

Annals of Otology,Rhinology & Laryngology

Free access

Research article

First published 2019-02-05

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson’s Disease

Francesco Cali, Mariagiovanna Cantone, Filomena Irene Ilaria Cosentino [...]

Journal of Parkinson’s Disease

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Research article

First published 2026-4

Clinical and Biological Phenotypes of Patients Carrying a Heterozygous Variant in Genes of Leptin-Melanocortin Signaling Pathway

Elsa Dieterlen, Delphine Collin-Chavagnac, Bérénice Segrestin [...]

Childhood Obesity

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