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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 2025

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants

Azita Tavasoli, Shayan Eghdami, Maryam Kachuei [...]

Sage Open Medical Case Reports

Retricted access

Case report

First published 2020-6

Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants

Sakil Kulkarni, Brooj Abro, Maria Laura Duque Lasio [...]

Pediatric and Developmental Pathology

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

Research article

First published 2024-8

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report

Mojiang Li, Yingshu Li, Ting Wen [...]

Journal of International Medical Research

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

Retricted access

Case report

First published 2023-9

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait

Yunting Lin, Xiaodan Chen, Cuili Liang [...]

European Journal of Ophthalmology

Retricted access

Research article

First published 2018-4-10

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation

Veronica Redaelli, Ettore Salsano, Lara Colleoni [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2022-09

Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients

Jiafeng Yao, Hao Gu, Wenjun Mou [...]

International Journal of Immunopathology and Pharmacology

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