Sage Journals: Discover world-class research

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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

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 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

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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Research article

First published 2011-09

A Novel Pathogenic Nonsense Triple-Nucleotide Mutation in the Low-Density Lipoprotein Receptor Gene and Its Clinical Correlation with Familial Hypercholesterolemia

Muhammad Ajmal, Waqas Ahmed, Naveed Akhtar [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2024-2

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Clorinda Brignola, Sara Volorio, Giovanna De Vecchi [...]

Tumori Journal

Open access

Case report

First published 2022

A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report

Carmela V. San Luis, Coreen Schwartzlow, Kenkichi Nozaki [...]

Journal of Investigative Medicine High Impact Case Reports

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Research article

First published 2024-4

Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations

Wangpan Shi, Yu Liu, Omonigho Aisagbonhi [...]

International Journal of Surgical Pathology

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Research article

First published 2021-5

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family

Yanan Ji, Xiangyu Zhao, Juanmei Zhang [...]

European Journal of Ophthalmology

Open access

Case report

First published 2018-4-13

When Rett syndrome is due to genes other than MECP2

Alan K. Percy, Jane Lane, Fran Annese [...]

Translational Science of Rare Diseases

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