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

Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population

勘误:多民族人群中范可尼贫血患者的特征和基因型-表型相关性

Steinberg-Shemer, Orna; Goldberg, Tracie A; Yacobovich, Joanne; Levin, Carina; Koren, Ariel; Revel-Vilk, Shoshana; Ben-Ami, Tal; Kuperman, Amir A; Zemer, Vered Shkalim; Toren, Amos; Kapelushnik, Joseph; Ben-Barak, Ayelet; Miskin, Hagit; Krasnov, Tanya; Noy-Lotan, Sharon; Dgany, Orly; Tamary, Hannah

A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis

全国范围内对噬血细胞性淋巴组织细胞增生症的表型/基因型格局进行分析:UNC13D与不良预后相关

Brik Simon, Dafna; Greental Ness, Yarden; Dgany, Orly; Noy-Lotan, Sharon; Krasnov, Tanya; Berger, Galit; Feuerstein, Tamar; Stein, Jerry; Kraus, Aviva; Yanir, Asaf; Barg, Assaf; Jacoby, Elad; Mandel-Shorer, Noa; Harlev, Dan; Even-Or, Ehud; Tamary, Hannah; Gilad, Oded; Steinberg-Shemer, Orna; Yacobovich, Joanne

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children

易患白血病的综合征是儿童遗传性血细胞减少症的主要原因。

Gilad, Oded; Dgany, Orly; Noy-Lotan, Sharon; Krasnov, Tanya; Yacobovich, Joanne; Rabinowicz, Ron; Goldberg, Tracie; Kuperman, Amir A; Abu-Quider, Abed; Miskin, Hagit; Kapelushnik, Noa; Mandel-Shorer, Noa; Shimony, Shai; Harlev, Dan; Ben-Ami, Tal; Adam, Etai; Levin, Carina; Aviner, Shraga; Elhasid, Ronit; Berger-Achituv, Sivan; Chaitman-Yerushalmi, Lilach; Kodman, Yona; Oniashvilli, Nino; Hameiri-Grosman, Michal; Izraeli, Shai; Tamary, Hannah; Steinberg-Shemer, Orna

Cdan1 Is Essential for Primitive Erythropoiesis

Cdan1 对原始红细胞生成至关重要

Noy-Lotan, Sharon; Dgany, Orly; Marcoux, Nathaly; Atkins, Ayelet; Kupfer, Gary M; Bosques, Linette; Gottschalk, Christine; Steinberg-Shemer, Orna; Motro, Benny; Tamary, Hannah

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population

在多民族人群中对范可尼贫血患者进行特征分析和基因型-表型相关性研究

Steinberg-Shemer, Orna; Goldberg, Tracie A; Yacobovich, Joanne; Levin, Carina; Koren, Ariel; Revel-Vilk, Shoshana; Ben-Ami, Tal; Kuperman, Amir A; Zemer, Vered Shkalim; Toren, Amos; Kapelushnik, Joseph; Ben-Barak, Ayelet; Miskin, Hagit; Krasnov, Tanya; Noy-Lotan, Sharon; Dgany, Orly; Tamary, Hannah

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia

全外显子组测序发现α-珠蛋白基因簇三倍体,导致β-地中海贫血的临床症状加重。

Steinberg-Shemer, Orna; Ulirsch, Jacob C; Noy-Lotan, Sharon; Krasnov, Tanya; Attias, Dina; Dgany, Orly; Laor, Ruth; Sankaran, Vijay G; Tamary, Hannah

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

戴蒙德-布莱克范贫血:一例非典型病例,基因组分析辅助诊断

Steinberg-Shemer, Orna; Keel, Siobán; Dgany, Orly; Walsh, Tom; Noy-Lotan, Sharon; Krasnov, Tanya; Yacobovich, Joanne; Quarello, Paola; Ramenghi, Ugo; King, Mary-Claire; Shimamura, Akiko; Tamary, Hannah

Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.

Codanin-1 是由先天性红细胞生成障碍性贫血 I 型 (CDAN1) 基因突变编码的蛋白质,它受细胞周期调控

Noy-Lotan Sharon, Dgany Orly, Lahmi Roxane, Marcoux Nathaly, Krasnov Tanya, Yissachar Nissan, Ginsberg Doron, Motro Benny, Resnitzky Peretz, Yaniv Isaac, Kupfer Gary M, Tamary Hannah