Sage Journals: Discover world-class research

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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

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

Research article

First published 2011-11

Factor VII Deficiency due to Compound Heterozygosity for Leu-48Pro Mutation and a Novel Pro260Leu Mutation

N. Kogiso, M. Taki, O. Takamiya

Clinical and Applied Thrombosis/Hemostasis

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Research article

First published 2013-12

New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy

Carlo Fusco, Angelo Russo, Daniela Galla [...]

Journal of Child Neurology

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Brief report

First published 2019-07

Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism

Gabrielle Dufort, Stéphanie Larrivée-Vanier, Dardye Eugène [...]

Thyroid®

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

Free access

First published 2003-09

Routine transferrin saturation measurement in liver clinic patients increases detection of hereditary haemochromatosis

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2001-09

A Pilot Survey of Cystic Fibrosis Clinical Manifestations in CFTR Mutation Heterozygotes

C. Castellani, C. Quinzii, S. Altieri [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2018-06

Correction of a Recessive Genetic Defect by CRISPR-Cas9-Mediated Endogenous Repair

Lucia Susani, Alessandra Castelli, Michela Lizier [...]

The CRISPR Journal

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Research article

First published 2000-12

Connexin-26 Gene Analysis in Hearing-Impaired Newborns

Jeff M. Milunsky, Thomas A. Maher, Elif Yosunkaya [...]

Genetic Testing and Molecular Biomarkers

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