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

Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity

研究重症联合免疫缺陷病和自身免疫性疾病中 RAG-2 和 LRBA 基因的伴随突变

Spivak, Ilia; Frizinsky, Shirly; Mandola, Amarilla; Lev, Atar; Simon, Amos J; Barel, Ortal; Vishnevskia-Dai, Vicktoria; Somech, Raz; Somekh, Ido

Broadening the Phenotypic Spectrum of MAFB-Related Disease: Renal, Auricular, Ocular, and Nervous System Involvement

扩大MAFB相关疾病的表型谱:肾脏、耳部、眼部和神经系统受累

Eliyahu, Aviva; Atias-Varon, Danit; Barel, Ortal; Khavkin, Yulia; Pras, Elon; Reznik-Wolf, Haike; Chorin, Odelia; Poleg, Tomer; Biller, Ari; Beckerman, Pazit; Abu-Amer, Nabil; Wygnanski-Jaffe, Tamara; Greenbaum, Lior; Vivante, Asaf; Krause, Irit

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异,证实并扩展了多指-巨头综合征的表型谱。

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

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

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease

RELA单倍体功能不全表现为克罗恩病的非典型表型

Tal, Noa; Baram, Liran; Gehlhaar, Arne; Gu, Weihong; Guo, Siqi; Santiago, Eduardo Gonzalez; Lev, Atar; Barel, Ortal; Shamir, Raanan; Somech, Raz; Konnikova, Liza; Shouval, Dror S

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics

以色列遗传性转甲状腺素蛋白淀粉样变性:遗传图谱和临床特征

Dori, Amir; Chorin, Odelia; Ruhrman-Shahar, Noa; Fellner, Avi; Alon, Tayir; Reznik-Wolf, Haike; Barel, Ortal; Fourey, Dana; Zadok, Osnat Itzhaki Ben; Aviv, Yaron; Nikitin, Vera; Ben-David, Merav; Shavit-Stein, Efrat; Goldis, Rivka; Kaplan, Batia; Shapiro, Daniela; Pras, Elon; Pollak, Arthur; Meiner, Vardiella; Arad, Michael; Greenbaum, Lior

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

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2

病例报告:罕见单基因疾病的临床表现:重新审视活化磷脂酰肌醇3-激酶δ综合征2

Shamriz, Oded; Mandola, Amarilla; Simon, Amos J; Lev, Atar; Attal, Pierre; Nadler, Chen; Barel, Ortal; Khavkin, Yulia; Eisenberg, Rachel; Somech, Raz; Toker, Ori

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

扩展 PRAAS 谱系:6 例 SCID-Omenn 综合征患儿中免疫蛋白酶体亚基 β 型 10 的新生突变

van der Made, Caspar I; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H M; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M; van de Veerdonk, Frank L; Netea, Mihai G; Slatter, Mary A; Flood, Terry; Gennery, Andrew R; Simon, Amos J; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S V; Hoischen, Alexander

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy

FNIP1基因的一种新突变与综合征性免疫缺陷和心肌病相关。

Spivak, Ilia; Lev, Atar; Simon, Amos J; Barel, Ortal; Somekh, Ido; Somech, Raz