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

Aptamer‐Based Approaches for Influenza Virus Detection: A Systematic Review

基于适配体的流感病毒检测方法:系统综述

Barak, Sharon; Anikster, Yair; Sarouk, Ifat; Stern, Eve; Eisenstein, Etzyona; Yissar, Tamar; Sherr-Lurie, Nir; Raas-Rothschild, Annick; Guttman, Dafna; Charostad, Javad; Ghoreshi, Zohreh‐al‐sadat; Arefinia, Nasir; Salajegheh, Faranak; Farsiu, Niloofar; Rezaei Zadeh Rukerd, Mohammad; Nakhaie, Mohsen

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects

DLD 缺乏症的生物能量学特征:剖析 PDHc 和 α-KGDHc 相关缺陷

Haham Zarbib, Yarden; Huri Ohev-Shalom, Shira; Lyskov, Shani Kassia; Mazor, Yuval; Anekstein-Spigel, Mika; Shalva, Nechama; Spiegel, Ronen; Staretz-Chacham, Orna; Manor, Joshua; Saada, Ann; Rock, Rachel; Anikster, Yair; Yardeni, Tal

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts

MED29双等位基因变异导致脑桥小脑发育不全伴白内障

Arkush, Leo; van Woerden, Geeske M; Ziv, Limor; Marek-Yagel, Dina; Fonseca, Reginald; Brevé, Esmee; Barel, Ortal; Shalva, Nechama; Veber, Alvit; Anikster, Yair; Ben-Ami Raichman, Dominique; Musallam, Banan; Marcu, Shai; Nissenkorn, Andreea; Mandel, Hanna; Kushner, Steven A; Ben Zeev, Bruria; Heimer, Gali

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

以色列透析人群中 APOL1 G1 和 G2 变体的多民族患病率

Ben-Ruby Dror, Atias-Varon Danit, Kagan Maayan, Chowers Guy, Shlomovitz Omer, Slabodnik-Kaner Keren, Mano Neta, Avayou Shany, Atsmony Yariv, Levin Dana, Dotan Edo, Calderon-Margalit Ronit, Shnaider Alla, Haviv Yosef S, Birk Ohad S, Hadar Noam, Anikster Yair, Berar Yanay Noa, Chernin Gil, Kruzel-Davila Etty, Beckerman Pazit, Rozen-Zvi Benaya, Doctor Gabriel T, Stanescu Horia C, Shemer Revital, Pras Elon, Reznik-Wolf Haike, Nahum Ayelet Hashahar, Dominissini Dan, Skorecki Karl, Vivante Asaf

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events

双等位基因PIGM编码变异导致难治性癫痫和智力障碍,但无血栓事件

Heimer, Gali; Pode-Shakked, Ben; Marek-Yagel, Dina; Vernitsky, Helly; Tzadok, Michal; Barel, Ortal; Eyal, Eran; Ben-Zeev, Bruria; Atzmon, Gil; Anikster, Yair

Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes

单基因大规模线粒体DNA缺失综合征的内分泌异常和生长模式

Daka, Ayman; Lahav, Einat; Yosef, Omer Bar; Bolkier, Yoav; Levy-Shraga, Yael; Anikster, Yair; Jacoby, Elad; Gruber, Noah

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction

对原发性患者成纤维细胞中二氢硫辛酰胺脱氢酶缺乏症的深入分析揭示了继发于线粒体功能障碍的代谢重编程。

Sprecher, Uri; Dsouza, Jeevitha; Marisat, Monzer; Barasch, Dinorah; Mishra, Kumudesh; Kakhlon, Or; Manor, Joshua; Anikster, Yair; Weil, Miguel

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

A single NLR gene confers resistance to leaf and stripe rust in wheat.

单个 NLR 基因赋予小麦对叶锈病和条锈病的抗性

Sharma Davinder, Avni Raz, Gutierrez-Gonzalez Juan, Kumar Rakesh, Sela Hanan, Prusty Manas Ranjan, Shatil-Cohen Arava, Molnár István, Holušová Kateřina, Said Mahmoud, Doležel Jaroslav, Millet Eitan, Khazan-Kost Sofia, Landau Udi, Bethke Gerit, Sharon Or, Ezrati Smadar, Ronen Moshe, Maatuk Oxana, Eilam Tamar, Manisterski Jacob, Ben-Yehuda Pnina, Anikster Yehoshua, Matny Oadi, Steffenson Brian J, Mascher Martin, Brabham Helen J, Moscou Matthew J, Liang Yong, Yu Guotai, Wulff Brande B H, Muehlbauer Gary, Minz-Dub Anna, Sharon Amir

Hereditary orotic aciduria identified by newborn screening

新生儿筛查发现的遗传性乳清酸尿症

Staretz-Chacham, Orna; Damseh, Nadirah S; Daas, Suha; Abu Salah, Nasser; Anikster, Yair; Barel, Ortal; Dumin, Elena; Fattal-Valevski, Aviva; Falik-Zaccai, Tzipora C; Hershkovitz, Eli; Josefsberg, Sagi; Landau, Yuval; Lerman-Sagie, Tally; Mandel, Hanna; Rock, Rachel; Rostami, Nira; Saraf-Levy, Talya; Shaul Lotan, Nava; Spiegel, Ronen; Tal, Galit; Ulanovsky, Igor; Wilnai, Yael; Korman, Stanley H; Almashanu, Shlomo