Sage Journals: Discover world-class research

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Case report

First published 2022-3

Biallelic Mutations in Ubiquitin-Specific Peptidase 53 ( USP53 ) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature

Mukul Vij, Srinivas Sankaranarayanan

Pediatric and Developmental Pathology

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Research article

First published 2025-10

Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal

Feng Sun, Jia-Ping Wan, Na-Na Zhang [...]

Thyroid®

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Research article

First published 2011-09

Phenotype-Genotype Correlation in 295 Chinese Deaf Subjects with Biallelic Causative Mutations in the GJB2 Gene

Fei-Fan Zhao, Yu-Bin Ji, Da-Yong Wang [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published

Similar Colorectal Cancer Risk in Patients with Monoallelic and Biallelic Mutations in the MYH Gene Identified in a Population with Adenomatous Polyposis

Sylviane Olschwang, Hélène Blanché, Céline de Moncuit [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2021-11

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children

Nadav Levinger, Karen Hendler, Eyal Banin [...]

European Journal of Ophthalmology

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Research article

First published 2021-02

Increased Efficiency for Biallelic Mutations of the CCR5 Gene by CRISPR-Cas9 Using Multiple Guide RNAs As a Novel Therapeutic Option for Human Immunodeficiency Virus

Dong Lin, Stefan H. Scheller, Madeline M. Robinson [...]

The CRISPR Journal

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Research article

First published 2024-11

Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation

Narges Hassanpoor, Nazanin Ebrahimiadib, Hamid Riazi-Esfahani [...]

European Journal of Ophthalmology

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Correction

First published 2025-10

Corrigendum to: Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal

Thyroid®

Open access

Case report

First published 2019

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

Shahad AlSaif, Muhammad Umair, Majid Alfadhel

Journal of Central Nervous System Disease

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Research article

First published 2000-12

Biallelic Discrimination Assays for the Three Common Ashkenazi Jewish Mutations and a Common Non-Jewish Mutation,in Tay-Sachs Disease,Using Fluorogenic TaqMan Probes

Chandra P. Ward, Anthony H. Fensom, Peter M. Green

Genetic Testing and Molecular Biomarkers

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