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

Protective eyewear in children with one eye vision loss: compliance and trends

单眼视力丧失儿童的防护眼镜:依从性和趋势

Yahalomi, Tal; Mezad-Koursh, Daphna; Sternfeld, Amir; Ehrenberg, Miriam; Zipori, Anat Bachar; Dotan, Gad

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

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9

由BBS9基因剪接影响变异引起的常染色体隐性遗传性视杆细胞-视锥细胞营养不良伴轻微眼外表现

Deitch, Iris; Itskov, Sofia; Panneman, Daan; Abu Shtaya, Aasem; Saban, Tal; Goldberg, Yael; Ehrenberg, Miriam; Cremers, Frans P M; Roosing, Susanne; Ben-Yosef, Tamar

Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case Study

眼眶淋巴静脉畸形合并眼内血管畸形:一例罕见病例研究

Shouchane-Blum, Karny; Yassur, Iftach; Sternfeld, Amir; Regev, Miriam; Gal-Or, Orly; Kornreich, Liora; Ehrlich, Rita; Ehrenberg, Miriam

Preoperative Visual Loss is the Main Cause of Irreversible Poor Vision in Children with a Brain Tumor

术前视力丧失是脑肿瘤患儿不可逆性视力障碍的主要原因。

Goldenberg-Cohen, Nitza; Ehrenberg, Miriam; Toledano, Helen; Kornreich, Liora; Snir, Moshe; Yassur, Iftach; Cohen, Ian J; Michowiz, Shalom