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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

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

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

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 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

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Research article

First published 2015-5

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations

Y. Xue, L. Wang, D. Xia [...]

Journal of Dental Research

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Research article

First published 2013-10

Giant Axonal Neuropathy Caused by a Novel Compound Heterozygous Mutation in the Gigaxonin Gene

Min Xu, Yu-wei Da, Lu Liu [...]

Journal of Child Neurology

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Research article

First published 2023-08

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa

Chao Dai, Weiming Ren, Yao Wei [...]

Genetic Testing and Molecular Biomarkers

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Brief report

First published 2021-10

Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism

Aryel Furman, Zeina Hannoush, Francisco Barrera Echegoyen [...]

Thyroid®

Open access

Case report

First published 2022

Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease,a Case Report

Pairach Pintavorn, Stephanie Munie, Sweta Munagapati

Canadian Journal of Kidney Health and Disease

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