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Open access

Case report

First published 2021-4

Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report

Xinwen Zhang, Shaozhi Zhao, Hongwei Liu [...]

Journal of International Medical Research

Open access

Case report

First published 2022

Complement Factor I deficiency: A novel homozygous CFI gene mutation

Wafaa Bouzroud, Amal Tazzite, Ibenbrahim yousra [...]

Sage Open Medical Case Reports

Retricted access

Research article

First published 2017-12

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome

Mirena C. Astiazarán, María Cervantes-Sodi, Erick Rebolledo-Enríquez [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2025-10

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report

Xingyu Xu, Zihan He, Yiwei Shen [...]

Journal of International Medical Research

Free access

Research article

First published 2022

Early-Onset Parkinson’s Disease and Brain Iron Accumulation Caused by a Novel Homozygous DJ-1 Mutation

Rong-Rong Lin, Qing-Qing Tao, Zhi-Ying Wu

Journal of Parkinson’s Disease

Retricted access

Research article

First published 2008-05

A Novel Homozygous Missense Mutation of the Dual Oxidase 2 (DUOX2) Gene in an Adult Patient with Large Goiter

Hidemi Ohye, Shuji Fukata, Akira Hishinuma [...]

Thyroid®

Open access

Research article

First published 2022

Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study

Naglaa M. Kamal, Omar I. Saadah, Shahad S. Alheraiti [...]

Sage Open Chronic Disease

Retricted access

Case report

First published 2011-5

Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Fleur S. van Dijk, Peter G.J. Nikkels, Nicolette S. den Hollander [...]

Pediatric and Developmental Pathology

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

Retricted access

Research article

First published 2003-03

Utility of Genetic Screening in Hypertrophic Cardiomyopathy: Prevalence and Significance of Novel and Double (Homozygous and Heterozygous) β -Myosin Mutations

Saidi A. Mohiddin, David A. Begley, Elisha McLam [...]

Genetic Testing and Molecular Biomarkers

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