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Open access

Research article

First published 2024

The impact of pathogenic BRCA1/2 tumor mutation status on high grade serous epithelial ovarian cancer survival outcome: A multicenter study from Indonesia

Sutrisno Sutrisno, Dina Marlina, Kevin Dominique Tjandraprawira [...]

Sage Open Medicine

Retricted access

Review article

First published 2021-3

Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

Marieke Peetsold, Susan Goorden, Martijn Breuning [...]

Journal of Child Neurology

Open access

Case report

First published 2024

Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation

Kok Hoe Chan, Nicolas Duque Clavijo, Gustavo Ayala [...]

Journal of Investigative Medicine High Impact Case Reports

Open access

Review article

First published

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

Mathieu Cerino, Svetlana Gorokhova, Anthony Béhin [...]

Journal of Neuromuscular Diseases

Retricted access

Review article

First published 2019-11

Pathogenic mutations in genes encoding nuclear envelope proteins and defective nucleocytoplasmic connections

Cecilia Östlund, Wakam Chang, Gregg G Gundersen [...]

Experimental Biology and Medicine

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Research article

First published 2012-07

Pathogenic Gene Screening and Mutation Detection in a Chinese Family with Multiple Osteochondroma

Xue Wang, Lin Li, Jiangxia Li [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2023

Targeted Gene Panel Sequencing Unveiled New Pathogenic Mutations in Patients With Breast Cancer

Souad Kartti, El Mehdi Bouricha, Oumaima Zarrik [...]

Bioinformatics and Biology Insights

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Research article

First published 2009-10

Identification of a Novel Pathogenic Mutation in BRCA2 in a Spanish Breast-Ovarian Cancer Family

Asuncion Torres, Josep Gumà, Marta Rodríguez [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2004

A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical,neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations

Wieslaw K. Dowjat, Izabela Kuchna, Thomas Wisniewski [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2024-10

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation

Mukesh Kumar, Aminu Aliyar, Arti Saini [...]

Annals of Neurosciences

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