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

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

WSB2基因中编码E3泛素连接酶底物受体的隐性变异是神经发育综合征的病因。

Luo, Shiyu; Gailus-Durner, Valérie; McGivern, Bobbi; Li, Qifei; Kottmeier, Jessica; Ho, Mai-Lan; Mor-Shaked, Hagar; Elpeleg, Orly; Aref-Eshghi, Erfan; Brodeur, Amanda C; Schmitz-Abe, Klaus; Genetti, Casie A; Picker, Jonathan; Shi, Jiahai; Bux, Reem Ibrahim; Ben-Omran, Tawfeg; Fuchs, Helmut; Harel, Tamar; de Angelis, Martin Hrabě; Agrawal, Pankaj B

Real-world experience with gene therapy in Duchenne muscular dystrophy center readiness and patients safety: report from Qatar

卡塔尔关于杜氏肌营养不良症基因治疗中心准备情况和患者安全方面的实际经验报告

Osman, Mahmoud Fawzi; Ibrahim, Khalid; Gleeson, Claire; Ibrahim, Haytham; Haque, Ikram Ul; Alhamad, Noora; Ben-Omran, Tawfeg

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar

卡塔尔全国婚前囊性纤维化、同型半胱氨酸尿症和脊髓性肌萎缩症基因筛查项目的成果

AlMarzooqi, Sara Khalid; Bux, Reem Ibrahim; Joy, Juby Ann; Islam, Nazmul; Ben-Omran, Tawfeg; Al-Hashimi, Ali Alawi; Alkowari, Moza; Al-Shafai, Mashael

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

MINPP1 的双等位基因功能丧失变异导致脑桥小脑发育不全,并伴有特征性的严重神经发育障碍

Al-Maraghi Aljazi, Shaath Rulan, Ford Katherine, Aamer Waleed, AlRayahi Jehan, Hussein Sura, Aliyev Elbay, Agrebi Nourhen, Kohailan Muhammad, Hubrack Satanay Z, Palaniswamy Sasirekha, Kennedy Adam D, DeBalsi Karen L, Elsea Sarah H, Benini Ruba, Ben-Omran Tawfeg, Lo Bernice, Akil Ammira S A, Fakhro Khalid A

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes

卡塔尔国家扩大新生儿代谢筛查计划:发病率和结果

Jamaleddin, Tala; El-Akouri, Karen; Abiib, Sumaya; Mitri, Rola; Ramaswamy, Mamatha; Musa, Sara; Ali, Rehab; Shahbeck, Noora; Al Rifai, Hilal; Abdoh, Ghassan; Ben-Omran, Tawfeg; Al-Dirbashi, Osama Y; Al-Shafai, Mashael

De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies

CHTF18 中的新生错义变异:可能扩大黏连蛋白病的临床谱

Aref-Eshghi, Erfan; Wentzensen, Ingrid M; Ben-Omran, Tawfeg; Bux, Reem Ibrahim; Gold, Nina B; McRoy, Erin; Nguyen, Hoanh; O'Grady, Lauren; Tu, Shao Ching; Chen, Yanmin; Folk, Leandra; McGivern, Bobbi

Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

针对患有软骨发育不全的婴幼儿的管理建议:临床实践是否符合这些建议?

Guillen-Navarro, Encarna; AlSayed, Moeenaldeen; Alves, Inês; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valérie; Fauroux, Brigitte; Fredwall, Svein; Irving, Melita; Kunkel, Philip; Lampe, Christian; Lausch, Ekkehart; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sérgio B

Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum

软骨发育不全患者睡眠呼吸障碍的管理:欧洲软骨发育不全论坛的指导原则

Fauroux, Brigitte; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Boon, Mieke; Cormier-Daire, Valérie; Fredwall, Svein; Guillen-Navarro, Encarna; Irving, Melita; Kunkel, Philip; Madureira, Núria; Maghnie, Mohamad; Milerad, Josef; Mohnike, Klaus; Mortier, Geert; Nobili, Lino; Pejin, Zagorka; Sessa, Marco; Sousa, Sérgio B

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar

探索卡塔尔非综合征性视网膜营养不良的遗传原因

Abiib, Sumaya; Khodjet-El-Khil, Houssein; Bux, Reem Ibrahim; El-Akouri, Karen; Okashah, Sarah; Ben Omran, Tawfeg; Al Saleh, Rehab; Al-Shafai, Mashael