日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

C19orf44 中的双等位基因无效变异会导致一种独特的迟发性视网膜营养不良表型,其特征是斑片状中心凹周围脉络膜视网膜萎缩

Ehrenberg Miriam, Avraham Maayan, Asodu Sandeep Sarma, Moye Abigail R, Sangermano Riccardo, Rizel Leah, Ali-Nasser Tahleel, Sher Ifat, Gurwitz David, Chao Katherine R, Rivera Antonio, Webster Andrew R, Rivolta Carlo, Newman Hadas, Pras Eran, Rotenstreich Ygal, Banin Eyal, Pierce Eric A, Zur Dinah, Arno Gavin, Bujakowska Kinga M, Lin Siying, Sharon Dror, Ben-Yosef Tamar

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis

对171例综合征型遗传性视网膜疾病患者的表型和基因型特征分析凸显了基因检测在准确临床诊断中的重要性

Kulyamzin, Sofia; Leibu, Rina; Newman, Hadas; Ehrenberg, Miriam; Goldenberg-Cohen, Nitza; Zayit-Soudry, Shiri; Mezer, Eedy; Rotenstreich, Ygal; Deitch, Iris; Panneman, Daan M; Zur, Dinah; Chervinsky, Elena; Shalev, Stavit A; Cremers, Frans P M; Sharon, Dror; Roosing, Susanne; Ben-Yosef, Tamar

Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population

以色列人群中遗传性视网膜疾病的全国患病率

Shalom, Sapir; Ben-Yosef, Tamar; Sher, Ifat; Zag, Amir; Rotenstreich, Ygal; Poleg, Tomer; Birk, Ohad S; Gradstein, Libe; Ehrenberg, Miriam; Deitch, Iris; Mezer, Eedy; Hecht, Idan; Pras, Eran; Ramon, Dan; Khateb, Samer; Zur, Dinah; Newman, Hadas; Kharouba, Rawan; Goldenberg-Cohen, Nitza; Leibu, Rina; Soudry, Shiri; Perlman, Ido; Banin, Eyal; Sharon, Dror

Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach

利用计算与实验相结合的方法对全长人脱氢多萜醇二磷酸合酶进行结构表征

Lisnyansky Bar-El, Michal; Lee, Su Youn; Ki, Ah Young; Kapelushnik, Noa; Loewenstein, Anat; Chung, Ka Young; Schneidman-Duhovny, Dina; Giladi, Moshe; Newman, Hadas; Haitin, Yoni

Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy

彩色瞳孔测量法用于客观诊断贝斯特卵黄状黄斑营养不良

Ben Ner, Daniel; Sher, Ifat; Hamburg, Amit; Mhajna, Mohamad O; Chibel, Ron; Derazne, Estela; Sharvit-Ginon, Inbal; Pras, Eran; Newman, Hadas; Levy, Jaime; Khateb, Samer; Sharon, Dror; Rotenstreich, Ygal

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

以色列人群中导致常染色体隐性遗传性视网膜疾病的突变携带者频率分析

Hanany, Mor; Allon, Gilad; Kimchi, Adva; Blumenfeld, Anat; Newman, Hadas; Pras, Eran; Wormser, Ohad; S Birk, Ohad; Gradstein, Libe; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

编码中心体蛋白78的CEP78基因的双等位基因截断突变会导致视锥细胞-视杆细胞变性并伴有感音神经性听力损失。

Namburi, Prasanthi; Ratnapriya, Rinki; Khateb, Samer; Lazar, Csilla H; Kinarty, Yael; Obolensky, Alexey; Erdinest, Inbar; Marks-Ohana, Devorah; Pras, Eran; Ben-Yosef, Tamar; Newman, Hadas; Gross, Menachem; Swaroop, Anand; Banin, Eyal; Sharon, Dror

Optical Coherence Tomography: An Adjunctive Tool for Differentiating between Choroidal Melanoma and Metastasis

光学相干断层扫描:鉴别脉络膜黑色素瘤与转移瘤的辅助工具

Vishnevskia-Dai, Vicktoria; Zur, Dinah; Yaacobi, Shiran; Moroz, Iris; Newman, Hadas; Neudorfer, Meira

Partial thickness corneal tissue as a patch graft material for prevention of glaucoma drainage device exposure

部分厚度角膜组织作为补片移植材料,用于预防青光眼引流装置暴露

Spierer, Oriel; Waisbourd, Michael; Golan, Yitzhak; Newman, Hadas; Rachmiel, Rony