医学
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10 篇有效样本 · 按发表日期由新到旧排列
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Microperimetry is a valuable tool for assessing changes in visual function following voretigene neparvovec-rzyl gene therapy
作者Caio Marques; Mariana Matioli da Palma; Huber Martins Vasconcelos Junior; Juliana Maria Ferraz Sallum
作者单位1. Universidade Federal de São Paulo, Escola Paulista de Medicina; 2. Instituto de Genética Ocular
Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy
作者Roselind L. Ni; Rebecca Procopio; Ezann Siebert; Jennifer A. Thompson; Tina M. Lamey; Terri L. McLaren; Fred K. Chen; Jose S. Pulido
作者单位1. Thomas Jefferson University; 2. Lions Eye Institute; 3. Sir Charles Gairdner Hospital; 4. The University of Western Australia; 5. University of Melbourne
Phenotype-integrated reinterpretation of laboratory-reported ABCA4 gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy
作者Dorothy T Wang; Bani Antonio-Aguirre; Annabelle Pan; Maria Ludovica Ruggeri; Setu P Mehta; Christy H Smith; Kelsey S Guthrie; Carolyn Applegate; Jefferson J Doyle; Mandeep S. Singh
作者单位1. Johns Hopkins University School of Medicine; 2. Johns Hopkins Hospital; 3. Johns Hopkins University; 4. Wilmer Eye Institute
Severe early-onset retinal and lenticular abnormalities associated with homozygous c.575T>C (p.Ile192Thr) variants in the VSX2 gene
作者Prithvi Naveen; Camiel J. F. Boon; Srikanta Kumar Padhy
作者单位1. LV Prasad Eye Institute, MTC Campus; 2. Amsterdam University Medical Center; 3. Leiden University Medical Center
Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization
作者Beatriz De-Pablo-Gómez-De-Liaño; Laura Moralejo-Vázquez; Carlos Llorente-La-Orden; Carlos Vargas-Coronado; Nicolás Estrada-Vásquez; Marta Jiménez-Rolando; Carlos De-Pablo-Martín
作者单位1. Hospital Central de la Cruz Roja San José y Santa Adela
Ocular manifestations in DYRK1A mutation: a five-case series from South Korea
作者Seung Ahn Yang; Jun Ho Boo; Heeyoung Choi; Su-Jin Kim; Chong Kun Cheon; Seung Min Lee; Ji-Eun Lee
作者单位1. Pusan National University Yangsan Hospital; 2. Pusan National University School of Medicine; 3. Pusan National University; 4. Pusan National University Hospital; 5. Pusan National University, Children’s Hospital
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context
作者Sara H. El-Dessouky; Wessam E. Sharaf-Eldin; Mona M. Aboulghar; Haissam Aref; Sameh M. Senousy; Mohamed A. Maher; Frederike L. Harms; Lova S. Matsa; Ahmed Ezz Elarab; Mohamed I. Ateya; Mostafa H. Mobarak; Dalia S. Zolfokar; Asmaa E. Abdelmohsen; Nahla N. Abdel-Aziz; Mahmoud Y. Issa; Adel H. Ahmed; Samar H. Soliman; Gehad A. Elmakkawy; Ghada M. Elhady; Maha M. Eid; Maha S. Zaki; Daniel Schorderet; Kerstin Kutsche; Ebtesam M. Abdalla
作者单位1. National Research Centre; 2. Cairo University; 3. University Medical Center Hamburg-Eppendorf; 4. Igenomix; 5. Ain Shams University; 6. Alexandria University; 7. Ecole Polytechnique Fédérale de Lausanne (EPFL), and University of Lausanne
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