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

Adrenal Suppression in Duchenne Muscular Dystrophy: Management Strategies Incorporating Novel Steroid Vamorolone

杜氏肌营养不良症的肾上腺抑制:包含新型类固醇Vamorolone的治疗策略

Sbrocchi, Anne Marie; Kinnett, Kathi; Lautatzis, Maria-Elena; McMillan, Hugh J; Selby, Kathryn A; Veerapandiyan, Aravind; Weber, David R; Apkon, Susan; Bharucha-Goebel, Diana X; Bharill, Sonum; Bansal, Shipra; Clemens, Paula R; Fiscaletti, Melissa; Halloun, Rana; Lam, Carol; Merchant, Nadia; McAdam, Laura; Nasomyont, Nat; Nicolau, Stefan; Ochoa Molina, Maria F; Phung, Kim; Rutter, Meilan M; Scavina, Mena; Surampudi, Prasanth N; Tamaroff, Jaclyn; Tian, Cuixia; Ward, Leanne M; Wood, Claire L; Wong, Sze Choong; Ahmet, Alex

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis

中枢性先天性甲状腺功能减退症的深入研究:一项多中心回顾性分析

German, Alina; Almashanu, Shlomo; de Vries, Liat; Gil Margolis, Merav; Halloun, Rana; Haim, Alon; Eyal, Ori; Levy-Khademi, Floris; Pivko-Levy, Dikla; Nir, Judith; Pinhas-Hamiel, Orit; Tenenbaum-Rakover, Yardena

Cytomegalovirus colitis presenting with lower gastrointestinal bleeding following chimeric antigen receptor-T cell therapy

嵌合抗原受体T细胞疗法后出现巨细胞病毒性结肠炎伴下消化道出血

Halloun, Jabour; Maza, Itay; Stern, Anat; Henig, Israel; Akria, Luiza; Zohar, Yaniv; Zuckerman, Tsila; Beyar-Katz, Ofrat

Adipose Tissue Insulin Resistance Is Not Associated With Changes in the Degree of Obesity in Children and Adolescents

儿童和青少年脂肪组织胰岛素抵抗与肥胖程度的变化无关

Halloun, Rana; Galderisi, Alfonso; Caprio, Sonia; Weiss, Ram

Neutrophils modulate natural killer-mediated osteoclastogenesis during Aggregatibacteractinomycetemcomitans (JP2 clone) infection

中性粒细胞在伴放线菌 (JP2 克隆) 感染期间调节自然杀伤细胞介导的破骨细胞生成

Bshara Halloun, Koren Hashai, Noy Pinto, Nadav Musai, Yehuda Klein, David Polak

The role of additional chemotherapy prior to autologous HCT in patients with relapse/refractory DLBCL in partial remission-A retrospective multicenter study

部分缓解期复发/难治性弥漫性大B细胞淋巴瘤患者自体造血干细胞移植前辅助化疗的作用——一项回顾性多中心研究

Shargian, Liat; Amit, Odelia; Bernstine, Hanna; Gurion, Ronit; Gafter-Gvili, Anat; Rozovski, Uri; Pasvolsky, Oren; Perets, Galit; Horowitz, Netanel A; Halloun, Jabour; Perry, Chava; Avivi, Irit; Raanani, Pia; Yeshurun, Moshe; Ram, Ron

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

ADAM22双等位基因致病变异会导致进行性脑病和婴儿期发病的难治性癫痫。

van der Knoop, Marieke M; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de França, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A L; Eaton, Alison J; Morneau-Jacob, Francois D; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J; Peeters-Scholte, Cacha M P C D; Kurul, Semra Hiz; Horvath, Rita; Lochmüller, Hanns; Murphy, David; Waldmüller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S; Voinova, Victoria Y; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Alkuraya, Fowzan S; Mefford, Heather C; Alfadhel, Majid; Haack, Tobias B; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry

Promoting oral and dental health in early childhood - knowledge, views and current practices among paediatricians in Israel

促进幼儿口腔健康——以色列儿科医生的知识、观点和当前实践

Shmueli, Aviv; Assad-Halloun, Aida; Fux-Noy, Avia; Halperson, Elinor; Shmueli, Einat; Ram, Diana; Moskovitz, Moti

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

SCUBE3功能丧失会导致一种可识别的隐性遗传发育障碍,这是由于骨形态发生蛋白信号传导缺陷所致。

Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Grüning, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Pode-Shakked, Ben; Albayrak, Hatice Mutlu; Işık, Emregül; Wit, Jan M; Dittrich, Marcus; Freire, Bruna L; Bertola, Debora R; Jorge, Alexander A L; Barel, Ortal; Sabir, Ataf H; Al Tenaiji, Amal M J; Taji, Sulaima M; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S L; Girisha, Katta M; Haaf, Thomas; Taylor, Jenny C; Dallapiccola, Bruno; Alkuraya, Fowzan S; Yang, Ruey-Bing; Tartaglia, Marco