Sage Journals: Discover world-class research

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Research article

First published 1970-9

Detection of the Heterozygous State in Bovine Porphyria: Analysis of Urinary Coproporphyrin Isomers

William E. Moore, Betty D. Stephenson, Anne S. Anderson [...]

Experimental Biology and Medicine

Free access

Review article

First published 2000-01

State-of-the-Art-Review : Combined Heterozygous Plasminogen Deficiency and Factor V Leiden Defect in the Same Kindred

Maria Teresa Sartori, Paolo Simioni, Giovanni Maurizio Patrassi [...]

Clinical and Applied Thrombosis/Hemostasis

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Research article

First published 2016-12-6

Role of Niemann-Pick Type C Disease Mutations in Dementia

Chiara Cupidi, Francesca Frangipane, Maura Gallo [...]

Journal of Alzheimer’s Disease

Open access

Article commentary

First published 2023-7

Slow Down and Seize: Seizures Triggered by Slow Wave Oscillations in a GABAergic Model of Dravet Syndrome

Gordon F. Buchanan

Epilepsy Currents

Free access

Research article

First published 2021-04-13

Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers

Mine Sezgin, Ani Kicik, Basar Bilgic [...]

Journal of Parkinson’s Disease

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Case report

First published 2017-4

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

Francesca Cortini, Barbara Marinelli, Silvia Romi [...]

Vascular and Endovascular Surgery

Free access

Research article

First published 1974-1

A New Haemoglobin Variant Haemoglobin J Birmingham a 120 (H3) Ala → Glu

H. Kamuzora, H. Lehmann, K. D. Griffiths [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2005-09

Total Iodide Organification Defect: Clinical and Molecular Characterization of an Italian Family

Laura Fugazzola, Deborah Mannavola, Maria Cristina Vigone [...]

Thyroid®

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Research article

First published 2009-10

Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation-Dependent Probe Amplification

Sueli Matilde da Silva-Costa, Fernanda Borchers Coeli, Carolina Rodrigues Lincoln-de-Carvalho [...]

Genetic Testing and Molecular Biomarkers

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Review article

First published

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

Pascale Richard, Capucine Trollet, Teresa Gidaro [...]

Journal of Neuromuscular Diseases

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