Sage Journals: Discover world-class research

Open access

Case report

First published 2022-9

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Yaqing Zhou, Yan Quan, Yijun Wu [...]

Journal of International Medical Research

Free access

Research article

First published 2020-7

Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease

Nüket Bilgen, Merve Bişkin Türkmen, Bengi Çınar Kul [...]

Journal of Veterinary Diagnostic Investigation

Free access

Brief report

First published 2010-5

Molecular Detection of Autosomal-Dominant Feline Polycystic Kidney Disease by Multiplex Amplification Refractory Mutation System Polymerase Chain Reaction

Ya-Jane Lee, Hsin-Yu Chen, Min-Liang Wong [...]

Journal of Veterinary Diagnostic Investigation

Free access

Case report

First published 2020

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP

T. Benquey, E. Fockens, L. Kouton [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2004-09

Genetic Polymorphism of MJD1 Alleles and Molecular Analysis of SCA3 Patients from Rio de Janeiro,Brazil

Raquel S. Gestinari, Stenio F.P. Duarte, Márcia M.G. Pimentel [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2014-7

Touchdown polymerase chain reaction detection of polycystic kidney disease and laboratory findings in different cat populations

Marcela C. Scalon, Thamiris F. da Silva, Larissa C. Aquino [...]

Journal of Veterinary Diagnostic Investigation

Retricted access

Brief report

First published 2000-12

Novel Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 ( PKD1 ) Gene Provides Supporting Evidence for Gene Conversion

Ali R. Afzal, Rodrigo N. Florêncio, Rohan Taylor [...]

Genetic Testing and Molecular Biomarkers

Free access

Review article

First published 2023-4

Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease)

Yasmine Alkhalid, Zeena Darji, Robert Shenkar [...]

Vascular Medicine

Retricted access

Research article

First published 2001-08

Laparoscopic Cyst Decortication Using the Harmonic Scalpel for Symptomatic Autosomal Dominant Polycystic Kidney Disease

Melanie L. McNally, Erdal Erturk, Gregory Oleyourryk [...]

Journal of Endourology

Retricted access

Research article

First published

Reaction Time is a Marker of Early Cognitive and Behavioral Alterations in Pure Cerebral Small Vessel Disease

Eric Jouvent, Sonia Reyes, François De Guio [...]

Journal of Alzheimer’s Disease

Search results