Sage Journals: Discover world-class research

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Research article

First published 2023-11

Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree

Feng Hu, Qian Li, Jie Shi [...]

European Journal of Ophthalmology

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Research article

First published 1998-7

Capd in Patients with Autosomal Dominant Polycystic Kidney Disease

Henrik Hadimeri, Ann-Cathrine Johansson, Börje Haraldsson [...]

Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis

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Research article

First published 2019-1

Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease

Tomáš Seeman, Magdaléna Fořtová, Bruno Sopko [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Case report

First published 2023-9

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait

Yunting Lin, Xiaodan Chen, Cuili Liang [...]

European Journal of Ophthalmology

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Research article

First published 1988-04

Hereditary hepatitis of LEC rats is controlled by a single autosomal recessive gene

Laboratory Animals

Open access

Research article

First published 2018-9-11

Dynamic Causal Modeling of Preclinical Autosomal-Dominant Alzheimer’s Disease

Will Penny, Jorge Iglesias-Fuster, Yakeel T. Quiroz [...]

Journal of Alzheimer’s Disease

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Research article

First published 2017-7

Peritoneal Dialysis for Patients with Autosomal Dominant Polycystic Kidney Disease

Sana Khan, Anna Giuliani, Carlo Crepaldi [...]

Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis

Free access

Research article

First published 2004-03

Familial Autosomal Dominant Brachydactyly Using 3D Surface Rendering and Multiplanar Reconstruction

Donald S. Hill, Deborah Drew, Susan Menihan

Journal of Diagnostic Medical Sonography

Open access

Research article

First published 2017-8

Modeling and analyses of a connected multi-car train system employing the inerter

Hsueh-Ju Chen, Wei-Jiun Su, Fu-Cheng Wang

Advances in Mechanical Engineering

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Research article

First published 2025

Attitudes of Parents With a Child With Autosomal Recessive Disease Toward Consanguinity

Yagoub Al-Kandari, Shaker Bahzad, Dina Ramadan [...]

INQUIRY: The Journal of Health Care Organization,Provision,and Financing

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