Sage Journals: Discover world-class research

Retricted access

Brief report

First published 2021-10-26

Early-Onset Dementia Associated with a Heterozygous,Nonsense,and de novo Variant in the MBD5 Gene

Guillermo González-Ortega, Sara Llamas-Velasco, Ana Arteche-López [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2020-11

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2

Xiao-Wen Liu, Su-Yang Wang, Zhan-Kui Xing [...]

Journal of International Medical Research

Open access

Research article

First published 2018-8

Association of DFNA5,SYK,and NELL1 variants along with HPV infection in oral cancer among the prolonged tobacco-chewers

Sharbadeb Kundu, Vijayalakshmi Ramshankar, Akalesh Kumar Verma [...]

Tumor Biology

Retricted access

Research article

First published 2021-03

Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients

Mehwish Zehravi, Mohsin Wahid, Junaid Ashraf [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2025

Functional analysis of 6 variations in FOXL2

Yuan Wang, Qian Wu, Yunyu Zhou [...]

Sage Open Medicine

Retricted access

Research article

First published 2018-12

Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family

Gulab Sher, Muhammad Naeem

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2019-6

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

C.E.L. Smith, J.A. Poulter, S.J. Brookes [...]

Journal of Dental Research

Open access

Case report

First published 2025-4

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report

Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Elius Paz-Cruz [...]

Science Progress

Free access

Research article

First published 2017-6

Next generation sequencing analysis of patients with familial cervical artery dissection

Caspar Grond-Ginsbach, Tobias Brandt, Manja Kloss [...]

European Stroke Journal

Open access

Case report

First published 2025

A novel homozygous HPS4 mutation in Hermansky–Pudlak syndrome: case report and literature review

Qianqian Liu, Wenqi Qing, Shanshan Guo [...]

Therapeutic Advances in Respiratory Disease

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