Sage Journals: Discover world-class research

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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

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Brief report

First published 2001-06

Compound Heterozygosity at the FMR1 Gene

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

Genetic Testing and Molecular Biomarkers

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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

Free access

Research article

First published 2013-7

Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene

Martin Overgaard, Claus Lohman Brasen, Dea Svaneby [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Free access

Other

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

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Case report

First published 2011-5

Gaucher Disease with Prenatal Onset and Perinatal Death Due to Compound Heterozygosity for the Missense R131C and Null Rec Nci I GBA Mutations

April Goebl, Raechel A. Ferrier, Patrick Ferreira [...]

Pediatric and Developmental Pathology

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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

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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