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

Red Blood Cell Exchange Transfusion for Severe Babesiosis

重症巴贝虫病的红细胞置换输血

Leaf, David E; Monson, Audrey E; Dias, Julie-Alexia; Marcos, Luis A; Wu, Ulysses; Rossi, Michael; Ng, Jia H; Patell, Rushad; Hundert, Joshua; El Khoury, Marc Y; Higgs, James; Smith, Robert P; Ramsaroop, Vishali; Green, Adam; Abdul Azim, Ahmed; Weisenberg, Scott; Kirkman, Laura A; Ingram, David; Hsu, Caroline M; Dieckhaus, Kevin; Hyson, Peter; Burger, Zoe; Chengsupanimit, Tayoot; Stalmack, Tammy; Aber, Rachel; Golden, Marjorie; Koshy, Maria; Wright, Kendall; Cortezzo, Grace; McLeod, Gavin; Wenzel-Rideout, Rebecca; Baigorri, Julio Javier; Bagchi, Aranya; Jaser, Ahmad; Socorro Matos, Guillermo; Sanchez-Almanzar, Daniel; Hoge, Steven T; Shenoy, Tushar; Krishnamurthy, Shobana; Kaunfer, Sarah A; Blau, Jack A; Woolley, Ann; Zamor, Rudline; Maczaj, Brigitte; Kenison, David; Totten, Arthur; Bateman, Victoria; Mohsin, Sabrina; Lee, Eun Sun; Garner, Joseph; Rath, Payal; Wu, Quinlan; Guermazi, Dorra; London, Abby; Arvanitis, Panos; Yune, Philip S; Abdullah, Mahie; Kim, Angela; Roy, Juby; George, Reshma; Kashfi, Simon; Hong, Susana; Upadrista, Pratap; Hirsch, Jamie S; Bulteel, Alexander; Sharma, Riya; Guo, Tina; Garcia, Daniela; Shaefi, Shahzad; Yeb, Joseph; Williams, George; Verma, Eesha; Gouda, Nourelhoda; Rosenthal, Hannah R; Chan, Angelica; Zainah, Hadeel; Heithaus, Seth; Saldivar, Miguel A; Wood, Emily; DiPalazzo, John; Elias, Susan; McAuliffe, Matthew; Abbas, Ramsha; Orenstein, Abigail; Tidswell, Mark A; Galiano, Peter; Spencer, Sanjae; Srinivasan, Sidharth; Xu, Joyce; Alla, Sivani; Alidoost, Leila; Jacobson, Eliana; Menghani, Sanjay V; Kannabran, Priyanka; Ogunribido, Deborah B; Ssentongo, Paddy; Powell, Debra; Meyer, Leah; Prabhune, Kshitij; Griffiths, Bianca; Gonzalez Aponte, Daphne; Dixon, Graham; Vannier, Edouard; Roberts, Scott C; Farmakiotis, Dimitrios; Krause, Peter J

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder

超越癫痫发作作为结果指标:CDKL5 缺乏症的全球严重程度评分系统

Jacoby, Peter; Marsh, Eric D; Demarest, Scott; Saldaris, Jacinta M; Leonard, Helen; Olson, Heather E; Saby, Joni N; Pestana-Knight, Elia; Rajaraman, Rajsekar; Price, Dana; Weisenberg, Judith; Suter, Bernhard; Downs, Jenny; Benke, Tim A

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency

三名患有胍基乙酸甲基转移酶(GAMT)缺乏症的成年患者的治疗及预后改善

Lee, Angela; Weisenberg, Judith; Toolan, Elizabeth; Shinawi, Marwan

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder

CDKL5 5'非翻译区缺失会导致CDKL5缺乏症

Haviland, Isabel; Hector, Ralph D; Swanson, Lindsay C; Verran, Aubrie Soucy; Sherrill, Emma; Frazier, Zoë; Denny, AnneMarie M; Lucash, Jenna; Zhang, Bo; Dubbs, Holly A; Marsh, Eric D; Weisenberg, Judith L; Leonard, Helen; Crippa, Milena; Cogliati, Francesca; Russo, Silvia; Suter, Bernhard; Rajaraman, Rajsekar; Percy, Alan K; Schreiber, John M; Demarest, Scott; Benke, Timothy A; Chopra, Maya; Yu, Timothy W; Olson, Heather E

Acute Appendicitis Secondary to Intestinal Schistosomiasis

肠道血吸虫病继发急性阑尾炎

Shyu, Ethan; Arias-Espinosa, Luis; Barrocas, Gabriele; Weisenberg, Scott; Malcher, Flavio

Solitary thalamic abscess without meningitis from Coccidioides immitis: illustrative case

由粗球孢子菌引起的孤立性丘脑脓肿(无脑膜炎):病例报告

Palla, Adhith; Kim, Nora C; Belakhoua, Sarra; Zagzag, David; Weisenberg, Scott; Rozman, Peter A

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder

对临床医生和照护者报告的 CDKL5 缺陷症患者的临床严重程度评估进行心理测量学评价

Saldaris, Jacinta M; Jacoby, Peter; Downs, Jenny; Marsh, Eric D; Leonard, Helen; Pestana-Knight, Elia; Rajaraman, Rajsekar; Weisenberg, Judith; Suter, Bernhard; Olson, Heather E; Price, Dana; Hong, William; Prange, Erin; Benke, Tim A; Demarest, Scott

Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study

针对 CDKL5 缺乏症患者的家长报告睡眠量表的修订:一项心理测量学研究

Saldaris, Jacinta M; Demarest, Scott; Jacoby, Peter; Olson, Heather E; Maski, Kiran; Pestana-Knight, Elia; Price, Dana; Rajaraman, Rajsekar; Suter, Bernhard; Weisenberg, Judith; Leonard, Helen; Marsh, Eric D; Benke, Tim A; Downs, Jenny

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

针对 CDKL5 缺乏症患者调整粗大运动技能评估方法:一项心理测量学研究

Saldaris, J M; Jacoby, P; Marsh, E D; Suter, B; Leonard, H; Olson, H E; Rajaraman, R; Pestana-Knight, E; Weisenberg, J; Price, D; Drummond, C; Benke, T A; Demarest, S; Downs, J