{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16(7)"],"submitter":["Kulyamzin S"],"funding":["Dresner Research Fund in Life Sciences","Stichting Blinden-Penning","Algemene Nederlandse Vereniging ter voorkoming van Blindheid","Landelijke Stichting voor Blinden en Slechtzienden","Stichting tot Verbetering van het Lot der Blinden","Foundation Fighting Blindness","Oogfonds","Israel Science Foundation","Rotterdamse Stichting Blindenbelangen","Stichting Blindenhulp"],"journal":["Genes"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12295353"],"repository":["biostudies-literature"],"pubmed_title":["Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis"],"pmcid":["PMC12295353"],"funding_grant_id":["CDGE-0621-0809-RAD","331/24"],"pubmed_authors":["Sharon D","Ehrenberg M","Kulyamzin S","Goldenberg-Cohen N","Newman H","Rotenstreich Y","Roosing S","Zur D","Zayit-Soudry S","Chervinsky E","Mezer E","Ben-Yosef T","Shalev S","Deitch I","Cremers F","Leibu R","Panneman D"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis","description":null,"dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jun","modification":"2025-08-13T03:04:22.688Z","creation":"2025-08-13T03:04:22.688Z"},"accession":"S-EPMC12295353","cross_references":{}}