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Retricted access

Case report

First published 2020-10

Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report

Mehdi Tavakoli, Amy M. Huang, Linda Cernichiaro-Espinosa [...]

Journal of VitreoRetinal Diseases

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Research article

First published 2018-1

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

N. Dinckan, R. Du, L.E. Petty [...]

Journal of Dental Research

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Research article

First published 2021-12

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies

Mustafa A. Salih, Muddathir H. Hamad, Marco Savarese [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2023-07

Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis

Harshit Khurana, Babylakshmi Muthusamy, Uday Yanamandra [...]

OMICS: A Journal of Integrative Biology

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Research article

First published 2017-10

Whole Exome Sequencing Identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree

Sun Fu, Wang Lei, Dai Lanlan [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2021-06

Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy

Chen Chen, Mu Yang, Lulin Huang [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2025

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families

Jafar Aghajani, Abbas Doosti, Mojtaba Jafarinia [...]

Journal of Investigative Medicine

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Research article

First published 2018-04

Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing

Biyuan Qiu, Tao Ma, Chunyan Peng [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2015-4

High-throughput DNA Sequencing Identifies Novel CtIP (RBBP8) Variants in Muscle-invasive Bladder Cancer Patients

Sarah J. Jevons, Angela Green, Gerton Lunter [...]

Bladder Cancer

Open access

Case report

First published 2020-8

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2 : a case report and literature review

Janez Jan Arko, Marusa Debeljak, Mojca Zerjav Tansek [...]

Journal of International Medical Research

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