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First published 2009-02

Ocular Vascular Thrombotic Events: A Diagnostic Window to Familial Thrombophilia (Compound Factor V Leiden and Prothrombin Gene Heterozygosity) and Thrombosis

Charles J. Glueck, Ping Wang

Clinical and Applied Thrombosis/Hemostasis

Retricted access

Brief report

First published 2001-06

Compound Heterozygosity at the FMR1 Gene

Madhuri R. Hegde, Matthew Fawkner, Belinda Chong [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2002-04

Compound Heterozygosity for the Common Sulfonylurea Receptor Mutations Can Cause Mild Diazoxide-Sensitive Hyperinsulinism

Benjamin Dekel, Daniel Lubin, Dalit Modan-Moses [...]

Clinical Pediatrics

Retricted access

Research article

First published 2022-10-11

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders

Mariusz Berdyński, Jan Ludwiczak, Anna Barczak [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2020-11

Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients

Danqing Qin, Li Du, Jicheng Wang [...]

Journal of International Medical Research

Open access

Brief report

First published 2008-1

Compound Heterozygosity in Sodium Channel Nav1.7 in a Family with Hereditary Erythermalgia

Mark E Samuels, Rene HM te Morsche, Mary E Lynch [...]

Molecular Pain

Open access

Case report

First published 2021-7

Severe fetal anemia and hydrops fetalis associated with compound heterozygosity for Hb Zurich-Albisrieden ( HBA2 :c.178G>C) and Hb Quong Sze ( HBA2 :c.377T>C)

Li Du, Xiuqin Bao, Wei He [...]

Journal of International Medical Research

Retricted access

Case report

First published 2017-12

Liver Fibrosis Associated With Crigler–Najjar Syndrome in a Compound Heterozygote: A Case Report

Cynthia R Fata, Lynette A Gillis, M Cristina Pacheco

Pediatric and Developmental Pathology

Open access

Case report

First published 2017

Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration

George P Paraskevas, Christos Yapijakis, Anastasia Bougea [...]

Sage Open Medical Case Reports

Free access

Case report

First published 2013-11

A patient with the rare alpha-1-antitrypsin variant Z bristol in compound heterozygosity with the Z mutation

KJ Bates, M Puxley, M Hill [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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