Sage Journals: Discover world-class research

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Case report

First published 2015-2

Autosomal Dominant Osteopetrosis Type II

Aslihan Kusvuran Ozkan, Pinar Doruk, Mehmet Adam [...]

Journal of Back and Musculoskeletal Rehabilitation

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Research article

First published 2001-2

Anaesthesia in a Child with Autosomal Recessive Omodysplasia

B. J. Di Luca, A. Mitchell

Anaesthesia and Intensive Care

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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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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 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

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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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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

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Review article

First published 2021-3

Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics

Ishwarya Narasimhan, Aishwarya Murali, Krishnakumar Subramanian [...]

European Journal of Ophthalmology

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Research article

First published 2021-5

Horseshoe Kidney in Conjunction With Autosomal Dominant Polycystic Kidney Disease: A Case Report

Dakota Philo

Journal of Diagnostic Medical Sonography

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Case report

First published 2013-9

Bilateral Retinal Vasculopathy Associated with Autosomal Dominant Dyskeratosis Congenita

Sara Vaz-Pereira, Patricio A. Pacheco, Shreyans Gandhi [...]

European Journal of Ophthalmology

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