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Retricted access

Case report

First published 2014-9

Recurrent Venous Thromboembolism in a Patient with Heterozygous Factor V Leiden Mutation

C. Whitney White, Angela R. Thomason, Valerie Prince

Hospital Pharmacy

Open access

Case report

First published 2019-9

Complex medical history of a patient with a compound heterozygous mutation in C1QC

R Lubbers, L J J Beaart-van de Voorde, K van Leeuwen [...]

Lupus

Open access

Case report

First published 2021-4

Heterozygous desmin gene ( DES ) mutation contributes to familial dilated cardiomyopathy

Ying-shuo Huang, Yun-li Xing, Hong-wei Li

Journal of International Medical Research

Free access

Research article

First published 2021-04-13

Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers

Mine Sezgin, Ani Kicik, Basar Bilgic [...]

Journal of Parkinson’s Disease

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

Open access

Case report

First published 2024

Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study

Souhaila El Gazzane, Amine Ichane, Chaimae Nahi [...]

Sage Open Pediatrics

Retricted access

Other

First published 2007-03

Basilar Artery Thrombosis in a Child Heterozygous for Prothrombin Gene G20210A Mutation

Orkide Hüdaoğlu, Semra Kurul, Uluç Yiş [...]

Journal of Child Neurology

Free access

Research article

First published 2023-1-3

A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype

Daisuke Murata, Christopher Grunseich, Miho Iijima [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2011-2

A Novel Compound Heterozygous Tyrosine Hydroxylase Mutation (p.R441P) with Complex Phenotype

Kristoffer Haugarvoll, Laurence A. Bindoff

Journal of Parkinson’s Disease

Retricted access

Research article

First published 2016-8

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2 -Linked Disease

Melissa A. Walker, Kyle P. Mohler, Kyle W. Hopkins [...]

Journal of Child Neurology

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