Sage Journals: Discover world-class research

Retricted access

Research article

First published 2024-11

Novel pathogenic variants of SLC38A8 gene and literature review

Xiaofang Ren, Lijuan Huang, Shan Cheng [...]

European Journal of Ophthalmology

Free access

Research article

First published 2021-07-30

Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort

Divya Nagabushana, Kiran Polavarapu, Mainak Bardhan [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-2

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Clorinda Brignola, Sara Volorio, Giovanna De Vecchi [...]

Tumori Journal

Open access

Research article

First published 2018-12-20

Japanese pathogenic variant database: DPV

Hisato Suzuki, Kenji Kurosawa, Keiichi Fukuda [...]

Translational Science of Rare Diseases

Open access

Research article

First published 2023-12

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report

Ya’nan Zhang, Xinyi Guo, Ling Hao [...]

Journal of International Medical Research

Retricted access

Research article

First published 1967-12

Pathogenic Properties of Encephalomyocarditis Virus Plaque Variants. ∗

John E. Craighead

Experimental Biology and Medicine

Open access

Article commentary

First published 2023-3

Channeling the Future of Pathogenicity Prediction for Genetic Variants in Epilepsy

Jacy L. Wagnon

Epilepsy Currents

Retricted access

Case report

First published 2019-10

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

Jennifer Hague, Philip Twiss, Zoe Mead [...]

Pediatric and Developmental Pathology

Open access

Review article

First published

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

Mathieu Cerino, Svetlana Gorokhova, Anthony Béhin [...]

Journal of Neuromuscular Diseases

Retricted access

Case report

First published 2023-7

Alström syndrome: Two clinical cases with two novel pathogenic variants

Juan C Herranz-Heras, Ana Barceló, Juan F Quesada-Espinosa [...]

European Journal of Ophthalmology

Search results