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

STIM-IP3R crosstalk regulates migration of breast cancer cells.

STIM-IP3R 相互作用调控乳腺癌细胞的迁移

Militsin Ruslana, Achildiev Cohen Hadas, Hershfinkel Maya, Levi Ofek, Drori Stavit, Yifat Raz Adi, Shaked Yuval, Palty Raz

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

Correction: The genetic landscape of Lynch syndrome in the Israeli population

更正:以色列人群中林奇综合征的遗传图谱

Shtaya, Aasem Abu; Nathan, Sofia Naftaly; Kedar, Inbal; Friedman, Eitan; Half, Elizabeth; Lidzbarsky, Gabi; Levi, Gili Reznick; Laish, Ido; Katz, Lior; Bazak, Lily; Peretz, Lilach Peled; Salmon, Lina Basel; Douiev, Liza; Kalis, Marina Lifshitc; Schechter, Menachem; Barzily-Rokni, Michal; Samra, Nadra Nasser; Abu-Freha, Naim; Hagari-Bechar, Ofir; Segol, Ori; Mattar, Samar; Barhom, Sarit Farage; Mordechai, Shikma; Rafid, Shiri Shkedi; Shalev, Stavit A; Peretz-Yablonski, Tamar; Levi, Zohar; Bruchim, Revital; Vinkler, Chana; Bernstein-Molho, Rinat; Lieberman, Sari; Goldberg, Yael

The genetic landscape of Lynch syndrome in the Israeli population

以色列人群中林奇综合征的遗传图谱

Abu Shtaya, Aasem; Nathan, Sofia Naftaly; Kedar, Inbal; Friedman, Eitan; Half, Elizabeth; Lidzbarsky, Gabi; Levi, Gili Reznick; Laish, Ido; Katz, Lior; Bazak, Lily; Peretz, Lilach Peled; Salmon, Lina Basel; Douiev, Liza; Kalis, Marina Lifshitc; Schechter, Menachem; Barzily-Rokni, Michal; Samra, Nadra Nasser; Abu-Freha, Naim; Hagari-Bechar, Ofir; Segol, Ori; Mattar, Samar; Barhom, Sarit Farage; Mordechai, Shikma; Rafid, Shiri Shkedi; Shalev, Stavit A; Peretz-Yablonski, Tamar; Levi, Zohar; Bruchim, Revital; Vinkler, Chana; Bernstein-Molho, Rinat; Lieberman, Sari; Goldberg, Yael

Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population

教育工具可帮助以色列异质性人群做出知情的基因携带者筛查决策

Gafni-Amsalem, Chen; Aboleil-Zoubi, Olfat; Chervinsky, Elena; Aleme, Ola; Khayat, Morad; Bashir, Husam; Perets, Lilach Peled; Mamluk, Efrat; Hakrosh, Shadia; Kurtzman, Shoshi; Tamir, Liron; Baram-Tsabari, Ayelet; Shalev, Stavit A

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms

科内莉亚·德·兰格综合征及相关诊断的基因组分析:新的候选基因、基因型-表型相关性和共同机制

Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela H; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John M Jr; Gripp, Karen W; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J; Jones, Kenneth L; Jones, Marilyn C; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally Ann; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia M; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan F; Sangha, Karan; Scheuerle, Angela E; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia G; White, Susan M; Young, Terri; Loomes, Kathleen M; Pipan, Mary; Harrington, Ann Tokay; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew A; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie D; Izumi, Kosuke; Raible, Sarah E; Krantz, Ian D

Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion

长岛型掌跖角化病患者肢端剥脱术揭示丝氨酸蛋白酶抑制剂B7在角质形成细胞粘附中的作用

Eran Cohen-Barak, Wassim Azzam, Jennifer L Koetsier, Nada Danial-Farran, Moran Barcan, Maysa Hriesh, Morad Khayat, Natalia Edison, Judith Krausz, Chen Gafni-Amsalem, Akiharu Kubo, Lisa M Godsel, Michael Ziv, Stavit Allon-Shalev

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

肽酶 ClpP 失活导致线粒体解聚酶 ClpX 及其相互作用的核蛋白和线粒体 DNA 的初级积累

Jana Key, Sylvia Torres-Odio, Nina C Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A Phillip West, Holger Prokisch, Peter Freisinger, William G Newman, Stavit Shalev, Stephan A Sieber, Ilka Wittig, Georg Auburger

MCM9 is associated with germline predisposition to early-onset cancer-clinical evidence

MCM9与早发性癌症的种系易感性相关——临床证据

Goldberg, Yael; Aleme, Ola; Peled-Perets, Lilach; Castellvi-Bel, Sergi; Nielsen, Maartje; Shalev, Stavit A

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

人类 COCH 基因的纯合功能丧失变异是听力损失的根本原因

Nada Danial-Farran, Elena Chervinsky, Prathamesh T Nadar-Ponniah, Eran Cohen Barak, Shahar Taiber, Morad Khayat, Karen B Avraham, Stavit A Shalev