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

Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency

人类PLCG2单倍体不足会导致一种新型的自然杀伤细胞免疫缺陷

Alinger, Joshua B; Mace, Emily M; Porter, Justin R; Mah-Som, Annelise Y; Daugherty, Allyssa L; Li, Stephanie; Throm, Allison A; Pingel, Jeanette T; Saucier, Nermina; Yao, Albert; Chinn, Ivan K; Lupski, James R; Ehlayel, Mohammad; Keller, Michael; Bowman, Greg R; Cooper, Megan A; Orange, Jordan S; French, Anthony R

Assessment of fluid removal using ultrasound, bioimpedance and anthropometry in pediatric dialysis: a pilot study

利用超声、生物电阻抗和人体测量学评估儿童透析中的液体清除情况:一项初步研究

Ehlayel, Abdulla M; Okunowo, Oluwatimilehin; Dutt, Mohini; Howarth, Kathryn; Zemel, Babette S; Poznick, Laura; Morgan, Xenia; Denburg, Michelle R; Copelovitch, Lawrence; Back, Susan J; Otero, Hansel J; Hartung, Erum A

Metabolic alkalosis in peritoneal dialysis - beyond the obvious: Questions

腹膜透析中的代谢性碱中毒——除了显而易见的方面:问题

Sharma, Neha; Ehlayel, Abdulla M

Kidney Outcomes and Hypertension in Survivors of Wilms Tumor: A Prospective Cohort Study

肾母细胞瘤幸存者肾脏结局与高血压:一项前瞻性队列研究

Chu, David I; Ehlayel, Abdulla M; Ginsberg, Jill P; Meyers, Kevin E; Benton, Maryjane; Thomas, Melissa; Carlson, Claire; Kolon, Thomas F; Tasian, Gregory E; Greenberg, Jason H; Furth, Susan L; Denburg, Michelle R

Sensitization to Common Allergens Among Children with Asthma and Allergic Rhinitis in Qatar

卡塔尔哮喘和过敏性鼻炎儿童对常见过敏原的致敏情况

Zahraldin, Khalid; Chandra, Prem; Tuffaha, Amjad; Ehlayel, Mohammad

Vecuronium- and Esmolol-Induced Pseudohypernatremia Due to Drug Interference With Ion-Selective Electrodes

维库溴铵和艾司洛尔引起的假性高钠血症,是由于药物干扰离子选择性电极所致

Polsky, Tracey G; Salmon, Eloise; Welsh, Sarah S; Lim, Derick; Feng, Sheng; Ballester, Lance; Ehlayel, Abdulla M; Hewlett, Jennifer L; Denburg, Michelle R; Boyer, Donald L; Beier, Ulf H

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

DNA连接酶1的双等位基因突变是多种免疫缺陷的根本原因。

Patrick Maffucci ,Jose Chavez ,Thomas J Jurkiw ,Patrick J O'Brien ,Jordan K Abbott ,Paul R Reynolds ,Austen Worth ,Luigi D Notarangelo ,Kerstin Felgentreff ,Patricia Cortes ,Bertrand Boisson ,Lin Radigan ,Aurélie Cobat ,Chitra Dinakar ,Mohammad Ehlayel ,Tawfeg Ben-Omran ,Erwin W Gelfand ,Jean-Laurent Casanova ,Charlotte Cunningham-Rundles

Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment

PI3K110δ基因突变导致自然杀伤细胞功能受损,雷帕霉素治疗可部分挽救这种功能。

Ruiz-García, Raquel; Vargas-Hernández, Alexander; Chinn, Ivan K; Angelo, Laura S; Cao, Tram N; Coban-Akdemir, Zeynep; Jhangiani, Shalini N; Meng, Qingchang; Forbes, Lisa R; Muzny, Donna M; Allende, Luis M; Ehlayel, Mohammed S; Gibbs, Richard A; Lupski, James R; Uzel, Gulbu; Orange, Jordan S; Mace, Emily M

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

原发性免疫缺陷病:基因组学方法揭示异质性孟德尔遗传病

Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Coban Akdemir, Zeynep H; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla M; Canter, Debra L; Mace, Emily M; Vece, Timothy J; Allen, Carl E; Abhyankar, Harshal A; Boone, Philip M; Beck, Christine R; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T N; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas L; Chinen, Javier; Cao, Tram N; Smith, Eric A; Caldirola, Maria Soledad; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Trujillo Vargas, Claudia M; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gözde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism

一种新的Rab27a突变可与黑素细胞蛋白结合,但不与Munc13-4结合,导致免疫缺陷但不引起白化病。

Netter, Petra; Chan, Sanny K; Banerjee, Pinaki P; Monaco-Shawver, Linda; Noroski, Lenora M; Hanson, Imelda C; Forbes, Lisa R; Mace, Emily M; Chinen, Javier; Gaspar, H Bobby; Sleiman, Patrick; Hakonarson, Hakon; Klein, Christoph; Ehlayel, Mohammad S; Orange, Jordan S