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

Patterns of Care and Data Quality in a National Registry of Black and White Patients with Merkel Cell Carcinoma

全国黑人和白人默克尔细胞癌患者登记库中的护理模式和数据质量

Rattani, Abbas; Gaskins, Jeremy; McKenzie, Grant; Scharf, Virginia Kate; Broman, Kristy; Pisu, Maria; Holder, Ashley; Dunlap, Neal; Schwartz, David; Yusuf, Mehran B

Variable skeletal phenotypes associated with biallelic variants in PRKG2

PRKG2基因双等位基因变异与多种骨骼表型相关

Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

肌苷三磷酸焦磷酸酶(ITPase)缺乏症引起的发育性和癫痫性脑病的临床放射学特征、分子谱及预后因素鉴定

Scala, Marcello; Wortmann, Saskia B; Kaya, Namik; Stellingwerff, Menno D; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G; Yildiz, Yilmaz; Ceylan, Ahmet C; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A; Alshwameen, Meznah O; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H; AlRasheed, Maha M; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A; García Cazorla, M Ángeles; Ribes, Antonia; Morava, Eva; Bibi, Farah; Haider, Shahzad; Ferla, Matteo P; Taylor, Jenny C; Alsaif, Hessa S; Firdous, Abdulwahab; Hashem, Mais; Shashkin, Chingiz; Koneev, Kairgali; Kaiyrzhanov, Rauan; Efthymiou, Stephanie; Genomics, Queen Square; Schmitt-Mechelke, Thomas; Ziegler, Andreas; Issa, Mahmoud Y; Elbendary, Hasnaa M; Striano, Pasquale; Alkuraya, Fowzan S; Zaki, Maha S; Gleeson, Joseph G; Barakat, Tahsin Stefan; Bierau, Jorgen; van der Knaap, Marjo S; Maroofian, Reza; Houlden, Henry

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

HIDEA综合征是由双等位基因、致病性、罕见或创始型P4HTM变异引起的,这些变异会影响P4H-TM蛋白的活性位点或整体稳定性。

Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti; Jamshidi, Yalda; Karimiani, Ehsan G; Komulainen-Ebrahim, Jonna; Kallankari, Hanna; Mignot, Cyril; Depienne, Christel; Keren, Boris; Nougues, Marie-Christine; Alsahlawi, Zahra; Romito, Antonio; Martini, Javier; Toosi, Mehran B; Carroll, Christopher J; Tripolszki, Kornelia; Bauer, Peter; Uusimaa, Johanna; Bertoli-Avella, Aida M; Koivunen, Peppi; Rahikkala, Elisa

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

人类输入蛋白β相关疾病:由IPO8基因双等位基因功能缺失变异引起的综合征性胸主动脉瘤

Van Gucht, Ilse; Meester, Josephina A N; Bento, Jotte Rodrigues; Bastiaansen, Maaike; Bastianen, Jarl; Luyckx, Ilse; Van Den Heuvel, Lotte; Neutel, Cédric H G; Guns, Pieter-Jan; Vermont, Mandy; Fransen, Erik; Perik, Melanie H A M; Velchev, Joe Davis; Alaerts, Maaike; Schepers, Dorien; Peeters, Silke; Pintelon, Isabel; Almesned, Abdulrahman; Ferla, Matteo P; Taylor, Jenny C; Dallosso, Anthony R; Williams, Maggie; Evans, Julie; Rosenfeld, Jill A; Sluysmans, Thierry; Rodrigues, Desiderio; Chikermane, Ashish; Bharmappanavara, Gangadhara; Vijayakumar, Kayal; Mottaghi Moghaddam Shahri, Hassan; Hashemi, Narges; Torbati, Paria Najarzadeh; Toosi, Mehran B; Al-Hassnan, Zuhair N; Vogt, Julie; Revencu, Nicole; Maystadt, Isabelle; Miller, Erin M; Weaver, K Nicole; Begtrup, Amber; Houlden, Henry; Murphy, David; Maroofian, Reza; Pagnamenta, Alistair T; Van Laer, Lut; Loeys, Bart L; Verstraeten, Aline

Stereotactic radiosurgery with versus without prior Onyx embolization for brain arteriovenous malformations

立体定向放射外科手术治疗脑动静脉畸形,术前是否进行Onyx栓塞的比较

Chen, Ching-Jen; Ding, Dale; Lee, Cheng-Chia; Kearns, Kathryn N; Pomeraniec, I Jonathan; Cifarelli, Christopher P; Arsanious, David E; Liscak, Roman; Hanuska, Jaromir; Williams, Brian J; Yusuf, Mehran B; Woo, Shiao Y; Ironside, Natasha; Burke, Rebecca M; Warnick, Ronald E; Trifiletti, Daniel M; Mathieu, David; Mureb, Monica; Benjamin, Carolina; Kondziolka, Douglas; Feliciano, Caleb E; Rodriguez-Mercado, Rafael; Cockroft, Kevin M; Simon, Scott; Mackley, Heath B; Zammar, Samer G; Patel, Neel T; Padmanaban, Varun; Beatson, Nathan; Saylany, Anissa; Lee, John Y K; Sheehan, Jason P

Survival impact of prolonged postoperative radiation therapy for patients with glioblastoma treated with combined-modality therapy

延长术后放射治疗对接受综合治疗的胶质母细胞瘤患者生存率的影响

Yusuf, Mehran B; Gaskins, Jeremy; Amsbaugh, Mark J; Woo, Shiao; Burton, Eric

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

ADPRHL2基因(编码ADP核糖水解酶3)的双等位基因突变会导致儿童应激诱发性癫痫性共济失调综合征。

Ghosh, Shereen G; Becker, Kerstin; Huang, He; Dixon-Salazar, Tracy; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M; Efthymiou, Stephanie; Hanna, Michael G; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmüller, Janine; Nürnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M; Wolf, Nicole I; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G

A Dose-Volume Response Model for Brain Metastases Treated With Frameless Single-Fraction Robotic Radiosurgery: Seeking to Better Predict Response to Treatment

采用无框架单次机器人放射外科手术治疗脑转移瘤的剂量-体积反应模型:旨在更好地预测治疗反应

Amsbaugh, Mark J; Yusuf, Mehran B; Gaskins, Jeremy; Dragun, Anthony E; Dunlap, Neal; Guan, Timothy; Woo, Shiao