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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

Research article

First published 2026-3

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report

Xiaoran Tao, Mengsha Yin, Xiaokun Gang

Journal of International Medical Research

Open access

Research article

First published 2023

Thrombin Generation Decrease After LMWH Administration in an Antithrombin-Deficient Pregnant Woman With a Homozygous HBS II Mutation

Ivana Malikova, Martina Husakova, Jana Bilkova [...]

Clinical and Applied Thrombosis/Hemostasis

Retricted access

Research article

First published 2013-7

Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta

B. Gasse, E. Karayigit, E. Mathieu [...]

Journal of Dental Research

Retricted access

Other

First published 1997-07

Intra-Atrial Thrombosis and Homozygous Factor V Leiden Mutation

Paolo Simioni, Domenico Scalia, Daniela Tormene [...]

Clinical and Applied Thrombosis/Hemostasis

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 2024-08

Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes

Zhonglin Liu, Chunyan Wang, Feng Ni [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2008-09

Bilateral Transverse Sinus Thrombosis Secondary to a Homozygous C677T MTHFR Gene Mutation

Ziad M. Kanaan, Rami Mahfouz, Ali Taher [...]

Genetic Testing and Molecular Biomarkers

Free access

Case report

First published 2019

Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy

Manu Jokela, Peter Baumann, Sanna Huovinen [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2016-6

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

Birce Dilge Taskin, Zeynep Selen Karalok, Esra Gurkas [...]

Journal of Child Neurology

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