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

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A基因的无义突变会增加早发性精神分裂症和其他精神障碍的风险,并有可能实现精准治疗。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A 基因缺失变异会增加早发性精神分裂症和其他精神障碍的风险,并可能使精准治疗成为可能。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Circulating Isthmin-1 Levels and Their Relationship with Diabetes and Metabolic Diseases in Kuwaiti Adults

科威特成年人循环中Isthmin-1水平及其与糖尿病和代谢性疾病的关系

Alshawaf, Eman; Marafie, Sulaiman K; Abu-Farha, Mohamed; Albatineh, Ahmed N; Alramah, Tahani; Albuhairi, Aldana; Al Qassar, Yafa; Zinoun, Reem; Shalabi, Rawan; Behbehani, Sarah; Mohammed, Dalal; Alajmi, Fahad; Abdalla, Mohammed A; Al-Ozairi, Ebaa; Shehab, Mohammad; Abdul-Ghani, Muhammad; Al-Mulla, Fahd; Abubaker, Jehad

Outcomes of COVID-19: Disparities by ethnicity

新冠疫情的影响:种族差异

Ali, Hamad; Alshukry, Abdullah; Marafie, Sulaiman K; AlRukhayes, Monera; Ali, Yaseen; Abbas, Mohammad Bu; Al-Taweel, Abdullah; Bukhamseen, Yousef; Dashti, Mohammad H; Al-Shammari, Abdullah A; Abu-Farha, Mohammad; AbuBakr, Jehad; Al-Mulla, Fahd

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

Next-generation sequencing in familial breast cancer patients from Lebanon

黎巴嫩家族性乳腺癌患者的下一代测序

Nadine Jalkh ,Eliane Chouery ,Zahraa Haidar ,Christina Khater ,David Atallah ,Hamad Ali ,Makia J Marafie ,Mohamed R Al-Mulla ,Fahd Al-Mulla ,Andre Megarbane

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

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