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

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability

SRPK3 对人类和斑马鱼的认知和视觉发育至关重要,这解释了 X 连锁智力障碍。

Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G; Khan, Tahir N; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N; Hammer, Michael F; Gottlob, Irene; Norton, William H J; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L; Davis, Erica E; Chudley, Albert E; Schwartz, Charles E; Kim, Cheol-Hee

High transferrin saturation predicts inferior clinical outcomes in patients with myelodysplastic syndromes

高转铁蛋白饱和度预示着骨髓增生异常综合征患者预后不良。

Teichman, Jennifer; Geddes, Michelle; Zhu, Nancy; Keating, Mary-Margaret; Sabloff, Mitchell; Christou, Grace; Leber, Brian; Khalaf, Dina; St-Hilaire, Eve; Finn, Nicholas; Shamy, April; Yee, Karen W L; Storring, John M; Nevill, Thomas J; Delage, Robert; Elemary, Mohamed; Banerji, Versha; Houston, Brett; Mozessohn, Lee; Chodirker, Lisa; Zhang, Liying; Siddiqui, Mohammed; Parmentier, Anne; Leitch, Heather A; Buckstein, Rena J

Impact of Frailty on Health Care Resource Utilization and Costs of Care in Myelodysplastic Syndromes

虚弱对骨髓增生异常综合征患者医疗资源利用和治疗费用的影响

Mozessohn, Lee; Li, Qing; Liu, Ning; Leber, Brian; Khalaf, Dina; Sabloff, Mitchell; Christou, Grace; Yee, Karen; Chodirker, Lisa; Parmentier, Anne; Siddiqui, Mohammed; Mamedov, Alexandre; Zhang, Liying; Liu, Ying; Earle, Craig C; Cheung, Matthew C; Mittmann, Nicole; Buckstein, Rena

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

敲除斑马鱼的眼动缺陷揭示了SRPK3是导致X连锁智力障碍的致病基因。

Lee, Yu-Ri; Thomas, Mervyn G; Roychaudhury, Arkaprava; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S; Choi, Tae-Ik; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N; Hammer, Michael F; Gottlob, Irene; Norton, William H J; Chudley, Albert E; Schwartz, Charles E; Kim, Cheol-Hee

Referral, Genetic Counselling, and BRCA Testing in the Manitoba High-Grade Serous Ovarian Cancer Population, 2004-2019

2004-2019年曼尼托巴省高级别浆液性卵巢癌人群的转诊、遗传咨询和BRCA检测

Winchar, Kelcey; Lambert, Pascal; McManus, Kirk J; Chodirker, Bernie; Kean, Sarah; Serfas, Kim; Decker, Kathleen; Nachtigal, Mark W; Altman, Alon D

Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

在常规产科超声检查中测量胎儿腔隔膜(CSP)宽度对提高22q11.2缺失综合征诊断率的实用性:一项病例对照研究

Pylypjuk, Christy L; Memon, Shiza F; Chodirker, Bernard N

Tuberculous Lymphadenitis in a Patient Receiving PD-1 Inhibitor for Melanoma: A Case Report and Brief Literature Review

接受PD-1抑制剂治疗黑色素瘤患者并发结核性淋巴结炎:病例报告及文献简述

Rittberg, Rebekah; Harlos, Craig; Rothenmund, Heidi; Das, Anirban; Tabori, Uri; Sinha, Namita; Singh, Harminder; Chodirker, Bernie; Kim, Christina A; Loreti, Claudia; Castelli, Letizia; Coraci, Daniele; Fusco, Augusto; Giovannini, Silvia; Padua, Luca; Akagunduz, Baran; Ozer, Muhammet; Bozkina, Ali Cagatay; Lebe, Banu

Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene

胎儿产前水肿与婴儿游离唾液酸贮积症相关,该病由SLC17A5基因中一种新的纯合缺失引起

Hasnain, Afia; Burnett, Sherri; Agatep, Ronald; Spriggs, Elizabeth; Chodirker, Bernard; Mhanni, Aizeddin Aziz A

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

针对临床诊断为杜博维茨综合征患者的替代基因组诊断方法

Dyment, David A; O'Donnell-Luria, Anne; Agrawal, Pankaj B; Coban Akdemir, Zeynep; Aleck, Kyrieckos A; Antaki, Danny; Al Sharhan, Hind; Au, Ping-Yee B; Aydin, Hatip; Beggs, Alan H; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A; Buyske, Steve; Chodirker, Bernard; Choi, Jungmin; Chudley, Albert E; Clericuzio, Carol L; Cox, Gerald F; Curry, Cynthia; de Boer, Elke; de Vries, Bert B A; Dunn, Kathryn; Dutmer, Cullen M; England, Eleina M; Fahrner, Jill A; Geckinli, Bilgen B; Genetti, Casie A; Gezdirici, Alper; Gibson, William T; Gleeson, Joseph G; Greenberg, Cheryl R; Hall, April; Hamosh, Ada; Hartley, Taila; Jhangiani, Shalini N; Karaca, Ender; Kernohan, Kristin; Lauzon, Julie L; Lewis, M E Suzanne; Lowry, R Brian; López-Giráldez, Francesc; Matise, Tara C; McEvoy-Venneri, Jennifer; McInnes, Brenda; Mhanni, Aziz; Garcia Minaur, Sixto; Moilanen, Jukka; Nguyen, An; Nowaczyk, Malgorzata J M; Posey, Jennifer E; Õunap, Katrin; Pehlivan, Davut; Pajusalu, Sander; Penney, Lynette S; Poterba, Timothy; Prontera, Paolo; Doriqui, Maria Juliana Rodovalho; Sawyer, Sarah L; Sobreira, Nara; Stanley, Valentina; Torun, Deniz; Wargowski, David; Witmer, P Dane; Wong, Isaac; Xing, Jinchuan; Zaki, Maha S; Zhang, Yeting; Boycott, Kym M; Bamshad, Michael J; Nickerson, Deborah A; Blue, Elizabeth E; Innes, A Micheil

Hypermetabolic lymphadenopathy on positron emission tomography scan following COVID-19 vaccination: A mimicker of disease progression in Hodgkin lymphoma

新冠疫苗接种后正电子发射断层扫描显示高代谢性淋巴结肿大:霍奇金淋巴瘤疾病进展的模拟表现

Suleman, Adam; Bilbily, Alexander; Cheung, Matthew; Chodirker, Lisa