Sage Journals: Discover world-class research

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First published 2008-08

Homozygous Myotonic Dystrophy With Craniosynostosis

Mirela Cerghet, Daniela Tapos, Fatema J. Serajee [...]

Journal of Child Neurology

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Research article

First published 2023-12

Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion

Huajuan Tong, Feng Zhao, Yonghui Yang [...]

Clinical Pediatrics

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Case report

First published 2020-7

Homozygous Familial Hypercholesterolemia: Anesthetic Challenges and Review of Literature

Suruchi Ladha, Neeti Makhija, Usha Kiran [...]

World Journal for Pediatric and Congenital Heart Surgery

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Research article

First published 2018-7

Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience

Paola S Buonuomo, Marina Macchiaiolo, Giovanna Leone [...]

European Journal of Preventive Cardiology

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Research article

First published 2023-3

Homozygous-Recessive Characteristics as a Biomarker of Predisposition for COVID-19

Darko Grujičić, Ljiljana Mirkov, Dragić Banković [...]

Clinical Nursing Research

Open access

Case report

First published 2021-6

Homozygous spinocerebellar ataxia type 3 in China: a case report

Yuchao Chen, Dan Li, Minger Wei [...]

Journal of International Medical Research

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Research article

First published 2013-7

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

G. Eda Utine, Göknur Haliloğlu, Bilge Salancı [...]

Journal of Child Neurology

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Other

First published 2007-07

Longitudinal myelitis in patient with systemic lupus erythematosus,homozygous prothrombin G20210A and heterozygous MTHFR 677T

Z. Touma, SF Atweh, L. Kibbi [...]

Lupus

Open access

Research article

First published 2023

Thrombin Generation Decrease After LMWH Administration in an Antithrombin-Deficient Pregnant Woman With a Homozygous HBS II Mutation

Ivana Malikova, Martina Husakova, Jana Bilkova [...]

Clinical and Applied Thrombosis/Hemostasis

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Research article

First published 2020-1

Microsomal triglyceride transfer protein inhibitor (lomitapide) efficacy in the treatment of patients with homozygous familial hypercholesterolaemia

Genovefa Kolovou, Olga Diakoumakou, Vana Kolovou [...]

European Journal of Preventive Cardiology

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