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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Patients With Immunoglobulin A Nephropathy Show Abnormal Frequencies of B Cell Subsets, Unconventional T Cells, and High Levels of Galactose-Deficient IgA1-Coated Gut Bacteria.

免疫球蛋白 A 肾病患者表现出 B 细胞亚群、非常规 T 细胞的异常频率,以及高水平的缺乏半乳糖的 IgA1 包被的肠道细菌

Gentile Micaela, Goerlich Nina, Lo I-Ju, Olson N Eric, McConnell Mark, Pospiech Johannes, Bohnenpoll Tobias, Skroblin Philipp, Radresa Olivier, Andag Uwe, Campbell Kirk N, Meliambro Kristin, Sanchez-Russo Luis, Verlato Alberto, Fiaccadori Enrico, Kim-Schulze Seunghee, Lanau Maria, Fernandez-Lorente M Loreto, Fribourg Miguel, Manrique Joaquin, Cravedi Paolo

CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia

佐治亚州接受治疗的各类囊性纤维化患者群体中CFTR变异频率和新生儿筛查组合表现

Barr, Eileen; Truitt, Brittany; Jergel, Andrew; Bai, Shasha; McKie, Kathleen; Sanchez Russo, Rossana; Oliver, Kathryn E; Linnemann, Rachel W

Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations

评估佐治亚州囊性纤维化新生儿筛查算法,为改进建议提供依据

Truitt, Brittany; Barr, Eileen; Wittenauer, Angela; Jergel, Andrew; Bai, Shasha; Sanchez Russo, Rossana; Oliver, Kathryn E; McKie, Kathleen; Linnemann, Rachel W

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

TRAF7相关多发性先天性异常-智力障碍综合征的心脏缺陷谱

Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T

Immune abnormalities in IgA nephropathy

IgA肾病中的免疫异常

Gentile, Micaela; Sanchez-Russo, Luis; Riella, Leonardo V; Verlato, Alberto; Manrique, Joaquin; Granata, Simona; Fiaccadori, Enrico; Pesce, Francesco; Zaza, Gianluigi; Cravedi, Paolo

Decay-Accelerating Factor Expression Modulates the Severity of Experimental Focal Segmental Glomerulosclerosis

衰变加速因子表达调节实验性局灶节段性肾小球硬化的严重程度

Sofia Bin, Kelly Budge, Micaela Gentile, Manuel Alfredo Podestà, Yaseen Khan, Jamil R Azzi, Luis Sanchez Russo, Gaetano La Manna, Paolo Cravedi

Long-term Apheresis in the Management of Patients With Recurrent Focal Segmental Glomerulosclerosis After Kidney Transplantation

肾移植后复发性局灶节段性肾小球硬化症患者的长期血浆置换治疗

Uffing, Audrey; Hullekes, Frank; Hesselink, Dennis A; Mansur, Juliana B; Malvezzi, Paolo; de Vries, Aiko P J; Seeger, Harald; Manfro, Roberto C; Nissaisorakarn, Pitchaphon; Wang, Aileen X; Reindl-Schwaighofer, Roman; Sanchez-Russo, Luis; Cravedi, Paolo; Riella, Leonardo V; Berger, Stefan P

The Gut and Kidney Crosstalk in Immunoglobulin A Nephropathy

免疫球蛋白A肾病中的肠肾相互作用

Sanchez-Russo, Luis; Rajasekaran, Arun; Bin, Sofia; Faith, Jeremiah; Cravedi, Paolo

Use of peritoneal dialysis for acute kidney injury during the COVID-19 pandemic in New York City: a multicenter observational study

纽约市 COVID-19 大流行期间使用腹膜透析治疗急性肾损伤:一项多中心观察性研究

Chen, Wei; Caplin, Nina; El Shamy, Osama; Sharma, Shuchita; Sourial, Maryanne Y; Ross, Michael J; Sourial, Mina H; Prudhvi, Kalyan; Golestaneh, Ladan; Srivatana, Vesh; Dalsan, Rochelle; Shimonov, Daniil; Sanchez-Russo, Luis; Atallah, Sara; Uribarri, Jaime