Sage Journals: Discover world-class research

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Research article

First published 2015-5

Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations

Keita Tsukada, Shin-ya Nishio, Mitsuru Hattori [...]

Annals of Otology,Rhinology & Laryngology

Free access

Review article

First published 2013-2-19

BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries

Farid Cherbal, Rabah Bakour, Saida Adane [...]

Breast Disease

Open access

Case report

First published 2025

DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients

Hajira Karim, Lima Oria, Aslı Güner Öztürk Demir [...]

Clinical Medicine Insights: Case Reports

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Research article

First published 2014-2

A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations

Bashaer Al-Bulushi, Amal Al-Hashem, Brahim Tabarki

Journal of Child Neurology

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Brief report

First published 2000-12

Delineation of the Spectrum of Wilson Disease Mutations in the Greek Population and the Identification of Six Novel Mutations

Georgios Loudianos, Mario Lovicu, Paola Solinas [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2011-01

Spectrum of CFTR Gene Mutations in Iranian Azeri Turkish Patients with Cystic Fibrosis

Mortaza Bonyadi, Omid Omrani, Mandana Rafeey [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2024

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease

Thuan Duc Lao, Thuy Ai Huyen Le

Biomarker Insights

Open access

Review article

First published 2022-1

BRCA1 / BRCA2 mutation spectrum analysis in South Asia: a systematic review

Sanjeev Kharel, Suraj Shrestha, Siddhartha Yadav [...]

Journal of International Medical Research

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Research article

First published 2018-2-21

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent

Sudha Bhattacharya, Satish V. Khadilkar, Atchayaram Nalini [...]

Journal of Neuromuscular Diseases

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Research article

First published 2016-11

Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients

Nawel Jaafar, Juan Gómez, Ikram Kammoun [...]

Genetic Testing and Molecular Biomarkers

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