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

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait

科威特新生儿极长链酰基辅酶A脱氢酶(VLCAD)缺乏症筛查项目的启示

Alsharhan, Hind; Ahmed, Amir A; Abdullah, Marwa; Almaie, Moudhi; Marafie, Makia J; Sulaiman, Ibrahim; Elshafie, Reem M; Alahmad, Ahmad; Alshammari, Asma; Cyril, Parakkal Xavier; Elkazzaz, Usama M; Ibrahim, Samia M; Elghitany, Mohamed; Salloum, Ayman M; Yassen, Fahmy; Alsafi, Rasha; Bastaki, Laila; Albash, Buthaina

Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries

中东和北非国家林奇综合征的识别和管理:一项涵盖12个国家的调查结果

Sina, Mohammad; Ghorbanoghli, Zeinab; Abedrabbo, Amal; Al-Mulla, Fahd; Sghaier, Rihab Ben; Buisine, Marie-Pierre; Cortas, George; Goshayeshi, Ladan; Hadjisavvas, Andreas; Hammoudeh, Wail; Hamoudi, Waseem; Jabari, Carol; Loizidou, Maria A; Majidzadeh-A, Keivan; Marafie, Makia J; Muslumov, Gurbankhan; Rifai, Laila; Seir, Rania Abu; Talaat, Suzan M; Tunca, Berrin; Ziada-Bouchaar, Hadia; Velthuizen, Mary E; Sharara, Ala I; Ahadova, Aysel; Georgiou, Demetra; Vasen, Hans F A

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

四种遗传综合征与先天性角化不良症有明显的重叠,这给临床诊断带来了困难

Walne Amanda J, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Plagnol Vincent, Albayrak Canan, Albayrak Davut, Kilic Sara Sebnem, Patıroglu Turkan, Akar Haluk, Godfrey Keith, Carter Tina, Marafie Makia, Vora Ajay, Sundin Mikael, Vulliamy Thomas, Tummala Hemanth, Dokal Inderjeet

Identification of 42 Genes Linked to Stage II Colorectal Cancer Metastatic Relapse

鉴定出与 II 期结直肠癌转移复发相关的 42 个基因

Al-Temaimi, Rabeah A; Tan, Tuan Zea; Marafie, Makia J; Thiery, Jean Paul; Quirke, Philip; Al-Mulla, Fahd

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

为确保全球范围内的全面数据收集,建议发展中国家开展遗传变异数据采集工作

Patrinos, George P; Al Aama, Jumana; Al Aqeel, Aida; Al-Mulla, Fahd; Borg, Joseph; Devereux, Andrew; Felice, Alex E; Macrae, Finlay; Marafie, Makia J; Petersen, Michael B; Qi, Ming; Ramesar, Rajkumar S; Zlotogora, Joel; Cotton, Richard G H

Planning the human variome project: the Spain report

规划人类基因组变异计划:西班牙报告

Kaput, Jim; Cotton, Richard G H; Hardman, Lauren; Watson, Michael; Al Aqeel, Aida I; Al-Aama, Jumana Y; Al-Mulla, Fahd; Alonso, Santos; Aretz, Stefan; Auerbach, Arleen D; Bapat, Bharati; Bernstein, Inge T; Bhak, Jong; Bleoo, Stacey L; Blöcker, Helmut; Brenner, Steven E; Burn, John; Bustamante, Mariona; Calzone, Rita; Cambon-Thomsen, Anne; Cargill, Michele; Carrera, Paola; Cavedon, Lawrence; Cho, Yoon Shin; Chung, Yeun-Jun; Claustres, Mireille; Cutting, Garry; Dalgleish, Raymond; den Dunnen, Johan T; Díaz, Carlos; Dobrowolski, Steven; dos Santos, M Rosário N; Ekong, Rosemary; Flanagan, Simon B; Flicek, Paul; Furukawa, Yoichi; Genuardi, Maurizio; Ghang, Ho; Golubenko, Maria V; Greenblatt, Marc S; Hamosh, Ada; Hancock, John M; Hardison, Ross; Harrison, Terence M; Hoffmann, Robert; Horaitis, Rania; Howard, Heather J; Barash, Carol Isaacson; Izagirre, Neskuts; Jung, Jongsun; Kojima, Toshio; Laradi, Sandrine; Lee, Yeon-Su; Lee, Jong-Young; Gil-da-Silva-Lopes, Vera L; Macrae, Finlay A; Maglott, Donna; Marafie, Makia J; Marsh, Steven G E; Matsubara, Yoichi; Messiaen, Ludwine M; Möslein, Gabriela; Netea, Mihai G; Norton, Melissa L; Oefner, Peter J; Oetting, William S; O'Leary, James C; de Ramirez, Ana Maria Oller; Paalman, Mark H; Parboosingh, Jillian; Patrinos, George P; Perozzi, Giuditta; Phillips, Ian R; Povey, Sue; Prasad, Suyash; Qi, Ming; Quin, David J; Ramesar, Rajkumar S; Richards, C Sue; Savige, Judith; Scheible, Dagmar G; Scott, Rodney J; Seminara, Daniela; Shephard, Elizabeth A; Sijmons, Rolf H; Smith, Timothy D; Sobrido, María-Jesús; Tanaka, Toshihiro; Tavtigian, Sean V; Taylor, Graham R; Teague, Jon; Töpel, Thoralf; Ullman-Cullere, Mollie; Utsunomiya, Joji; van Kranen, Henk J; Vihinen, Mauno; Webb, Elizabeth; Weber, Thomas K; Yeager, Meredith; Yeom, Young I; Yim, Seon-Hee; Yoo, Hyang-Sook

Wolcott-Rallison syndrome in a Bedouin boy

贝都因男孩患上沃尔科特-拉利森综合征

Marafie, Makia J; Redha, Mary A; Al-Naggar, Rezk L