Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures-Reference-Cited by-同舟云学术

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Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Published:2012-08-29 Issue:8 Volume:7 Page:e43799
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Licastro Danilo,Mutarelli Margherita,Peluso Ivana,Neveling Kornelia,Wieskamp Nienke,Rispoli Rossella,Vozzi Diego,Athanasakis Emmanouil,D'Eustacchio Angela,Pizzo Mariateresa,D'Amico Francesca,Ziviello Carmela,Simonelli Francesca,Fabretto Antonella,Scheffer Hans,Gasparini Paolo,Banfi Sandro,Nigro Vincenzo

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to <b><i>USH2A</i></b> Genetic Variants;Ophthalmic Research;2021-11-15

2. Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India;Molecular Genetics & Genomic Medicine;2019-12-09

3. Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1;Genes;2019-09-21

4. A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review;Gene;2019-07

5. Genetic Screening of the Usher Syndrome in Cuba;Frontiers in Genetics;2019-05-22

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