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

Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome

胎儿巨头畸形:产前检查结果及高危病例的随访

Miremberg, Hadas; Malinger, Gustavo; Kidron, Deborah; Levy, Michal; Yaron, Yuval; Shohat, Mordechai; Goldstein, Rayna; Ben Sira, Liat; Brusilov, Michael; Birnbaum, Roee; Haratz, Karina Krajden

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

对患有费兰-麦克德米德综合征的以色列患者进行临床特征分析和医疗管理

Chorin, Odelia; Greenbaum, Lior; Lev-Hochberg, Shelly; Feinstein-Goren, Neta; Eliyahu, Aviva; Shani, Hagit; Pras, Elon; Weissbach, Tal; Bolkier, Yoav; Heimer, Gali; Lev, Dorit; Michelson, Marina; Regev, Miriam; Josefsberg, Sagi; Batzir, Nurit Assia; Shalata, Adel; Spiegel, Ronen; Segel, Reeval; Lobel, Orit; Abu-Libdeh, Bassam; Shohat, Mordechai; Frydman, Moshe; Hady-Cohen, Ronen; Pode-Shakked, Ben; Rein-Rothschild, Annick

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses

每次妊娠都进行外显子组测序吗?结构正常胎儿的三联体外显子组测序结果

Levy, Michal; Lifshitz, Shira; Goldenberg-Fumanov, Mirela; Bazak, Lily; Goldstein, Rayna Joy; Hamiel, Uri; Berger, Rachel; Lipitz, Shlomo; Maya, Idit; Shohat, Mordechai

Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly

SYNCRIP基因嵌合变异的鉴定导致胎儿脑室周围结节状异位症、脑沟异常和幕下畸形

Birnbaum, Roee; Malinger, Gustavo; Ben Sira, Liat; Goldenberg-Furmanov, Mirela; Miremberg, Hadas; Shohat, Mordechai; Haratz, Karina Krajden

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

INTS11基因的双等位基因变异与一种复杂的神经系统疾病相关。

Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population

犹太伊朗人群中由 HSPB1 基因突变引起的神经病变的早期和晚期表现

Greenbaum, Lior; Ben-David, Merav; Nikitin, Vera; Gera, Orna; Barel, Ortal; Hersalis-Eldar, Adi; Shamash, Jana; Shimshoviz, Noam; Reznik-Wolf, Haike; Shohat, Mordechai; Dominissini, Dan; Pras, Elon; Dori, Amir

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

单中心利用公共资金进行临床外显子组测序以诊断神经发育障碍或多发性先天性异常的经验

Pode-Shakked, Ben; Barel, Ortal; Singer, Amihood; Regev, Miriam; Poran, Hana; Eliyahu, Aviva; Finezilber, Yael; Segev, Meirav; Berkenstadt, Michal; Yonath, Hagith; Reznik-Wolf, Haike; Gazit, Yael; Chorin, Odelia; Heimer, Gali; Gabis, Lidia V; Tzadok, Michal; Nissenkorn, Andreea; Bar-Yosef, Omer; Zohar-Dayan, Efrat; Ben-Zeev, Bruria; Mor, Nofar; Kol, Nitzan; Nayshool, Omri; Shimshoviz, Noam; Bar-Joseph, Ifat; Marek-Yagel, Dina; Javasky, Elisheva; Einy, Reviva; Gal, Moran; Grinshpun-Cohen, Julia; Shohat, Mordechai; Dominissini, Dan; Raas-Rothschild, Annick; Rechavi, Gideon; Pras, Elon; Greenbaum, Lior

Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Smith-Lemli-Opitz 综合征:DHCR7:c.964-1G>C 变异携带者夫妇的实际风险是多少?

Daum, Hagit; Meiner, Vardiella; Michaelson-Cohen, Rachel; Sukenik-Halevy, Rivka; Zalcberg, Michal Levy; Bar-Ziv, Anat; Weiden, A Tzvi; Scher, Sholem Y; Shohat, Mordechai; Zlotogora, Joël

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

以色列犹太人群中遗传性听力损失的基因谱,包括新型人类耳聋基因 ATOH1

Brownstein, Zippora; Gulsuner, Suleyman; Walsh, Tom; Martins, Fábio T A; Taiber, Shahar; Isakov, Ofer; Lee, Ming K; Bordeynik-Cohen, Mor; Birkan, Maria; Chang, Weise; Casadei, Silvia; Danial-Farran, Nada; Abu-Rayyan, Amal; Carlson, Ryan; Kamal, Lara; Arnthórsson, Asgeir Ö; Sokolov, Meirav; Gilony, Dror; Lipschitz, Noga; Frydman, Moshe; Davidov, Bella; Macarov, Michal; Sagi, Michal; Vinkler, Chana; Poran, Hana; Sharony, Reuven; Samra, Nadra; Zvi, Na'ama; Baris-Feldman, Hagit; Singer, Amihood; Handzel, Ophir; Hertzano, Ronna; Ali-Naffaa, Doaa; Ruhrman-Shahar, Noa; Madgar, Ory; Sofrin-Drucker, Efrat; Peleg, Amir; Khayat, Morad; Shohat, Mordechai; Basel-Salmon, Lina; Pras, Elon; Lev, Dorit; Wolf, Michael; Steingrimsson, Eirikur; Shomron, Noam; Kelley, Matthew W; Kanaan, Moien N; Allon-Shalev, Stavit; King, Mary-Claire; Avraham, Karen B