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

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

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

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

双等位基因DAW1变异会导致一种运动性纤毛病,其特征是侧向性缺陷和轻微的纤毛摆动异常。

Leslie, Joseph S; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H; Craig, Samuel B; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Lorentzen, Esben; Norris, Dominic P; Anikster, Yair; Omran, Heymut; Grimes, Daniel T; Crosby, Andrew H; Baple, Emma L

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

外显子组测序在普通儿科病房中对疑似遗传疾病住院儿童的临床意义

Kagan, Maayan; Semo-Oz, Rotem; Ben Moshe, Yishay; Atias-Varon, Danit; Tirosh, Irit; Stern-Zimmer, Michal; Eliyahu, Aviva; Raas-Rothschild, Annick; Bivas, Maayan; Shlomovitz, Omer; Chorin, Odelia; Rock, Rachel; Tzadok, Michal; Ben-Zeev, Bruria; Heimer, Gali; Bolkier, Yoav; Gruber, Noah; Dagan, Adi; Bar Aluma, Bat El; Pessach, Itai M; Rechavi, Gideon; Barel, Ortal; Pode-Shakked, Ben; Anikster, Yair; Vivante, Asaf

Comparison of Speckle Tracking Echocardiography During Different Pacing Modalities for Cardiac Resynchronization Therapy Response Prediction

比较不同起搏模式下斑点追踪超声心动图在心脏再同步治疗反应预测中的应用

Tejman-Yarden, Shai; Barzilai, Dor Hadida; Ertracht, Offir; Bachner-Heinenzon, Noa; Bogdan, Stephan; Katz, Uriel; Chatterji, Sumit; Dray, Efrat Mazor; Bolkier, Yoav; Glikson, Michael; Beinart, Roy

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

CACNA1C相关疾病的表型扩展,包括孤立性神经系统表现

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S; Au, Ping Yee Billie; Shashi, Vandana

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

更正:CACNA1C相关疾病的表型扩展,包括孤立性神经系统表现

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S; Au, Ping Yee Billie; Shashi, Vandana

Preoperative miRNA-208a as a Predictor of Postoperative Complications in Children with Congenital Heart Disease Undergoing Heart Surgery

术前 miRNA-208a 作为先天性心脏病患儿心脏手术后并发症的预测因子

Zloto, Keren; Tirosh-Wagner, Tal; Bolkier, Yoav; Bar-Yosef, Omer; Vardi, Amir; Mishali, David; Paret, Gidi; Nevo-Caspi, Yael