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

Adult genomic medicine: lessons from a multisite study of 2700 patients

成人基因组医学:一项纳入2700名患者的多中心研究的经验教训

Bakur, Khadijah; Hamid, Halima; Alhaddad, Bader; Alfadhel, Majid; Alhashem, Amal; Eyaid, Wafaa; Alanzi, Talal; Al Mutairi, Fuad; Alswaid, Abdulrahman; Ababneh, Farouq; Al Ghamdi, Malak; Mohamed, Sarar; Alaskar, Ahmed; Alqahtani, Farjah; Alzaidan, Hamad; Al-Owain, Mohammed; Faqeih, Eissa A; Mushiba, Aziza M; Alanazi, Rola; Almoallem, Basamat; Alsaleh, Norah Saleh; Al Tala, Saeed; Alshammari, Muneera; Turkistani, Alyazeed; Gosadi, Ghadah; Hakami, Fahad; Alobaid, Fahad; Al Rukban, Hadeel; Alfaidi, Ahmed; Ba-Abbad, Rola; Almuqbil, Mohammed A; Al-Boukai, Ahmad; Alamri, Abdulrahman Saad; Alshehri, Ali; Sulaiman, Raashda A; Almontasheri, Ali; Danish, Enam; AlSagheir, Afaf; Aljeaid, Deema; Al-Awam, Bashayer S; Shawli, Aiman; Al-Otaibi, Maha; Majdali, Wed Sameer; Azher, Zohor Asaad; Almannai, Mohammed; Baalawi, Wail; AlAbdi, Lama; Benoukraf, Touati; Alkuraya, Fowzan S

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

ELOVL1双等位基因变异与髓鞘形成不足性脑白质营养不良、运动障碍和鱼鳞病相关。

Wong, Keit Men; Maroofian, Reza; Meier, Kolja; Diegmann, Susann; Tkemaladze, Tinatin; Alvi, Javeria Raza; Tasharrofi, Behnoosh; Efthymiou, Stephanie; Munchau, Alexander; Korenke, G Christoph; Almontashiri, Naif; Eyaid, Wafaa; Kashgari, Amna; Alotaibi, Modhi; Gärtner, Jutta; Huppke, Brenda; Asadollahi, Mostafa; Chikvinidze, Gocha; Keramatipour, Mohammad; Sultan, Tipu; Thiele, Holger; Nürnberg, Peter; Gräler, Markus H; Houlden, Henry; Huppke, Peter

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study

沙特阿拉伯利雅得一家三级医疗中心近亲结婚与单基因疾病发生率的关系:一项为期两年的横断面研究

Alshamlani, Lamia K; Alsulaim, Dana S; Alabbad, Raghad S; Alhoshan, Ahad A; Alkhoder, Joud F; Alsaleh, Norah S; Almannai, Mohammed; Ababneh, Faroug; Algattan, Manal; Alsini, Lojain; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa M; Al Mutairi, Fuad; Umair, Muhammad; Alfadhel, Majid

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A

与 POLR3A 相关的 Wiedemann-Rautenstrauch 综合征的进一步描述

Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A Kashgari, Aaisha Al Balushi, Fahad A Al Dihan, Mohannad A Alghamdi, Abothnain Manal, Ana C González-Álvarez, Stefan T Arold, Wafaa Eyaid

Correction: Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report

更正:一名13岁女孩患有自闭症谱系障碍、畸形、右侧孤立肾和多囊卵巢,并被诊断为Helsmoortel-Van der Aa综合征:病例报告

Al-Enezi, Ebtesam; Alghamdi, Mohannad; Al-Enezi, Khaled; AlBalwi, Mohammed; Davies, William; Eyaid, Wafaa

Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report

一例13岁女孩合并自闭症谱系障碍、畸形、右侧孤立肾和多囊卵巢综合征的Helsmoortel-Van der Aa综合征病例报告

Al-Enezi, Ebtesam; Alghamdi, Mohannad; Al-Enezi, Khaled; AlBalwi, Mohammed; Davies, William; Eyaid, Wafaa

Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia

病例报告:沙特阿拉伯发育性癫痫性脑病相关的UGDH创始变异

Alaamery, Manal; Massadeh, Salam; Aldarwish, Manar; Albesher, Nour; Aljawini, Nora; Alahmed, Othman; Kashgari, Amna; Walsh, Christopher A; Eyaid, Wafaa

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients

HMG-CoA裂解酶缺乏症:一项对62名沙特患者的回顾性研究

Alfadhel, Majid; Abadel, Basma; Almaghthawi, Hind; Umair, Muhammad; Rahbeeni, Zuhair; Faqeih, Eissa; Almannai, Mohammed; Alasmari, Ali; Saleh, Mohammed; Eyaid, Wafaa; Alfares, Ahmed; Al Mutairi, Fuad