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

Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies

MYF5基因中一种新型移码变异的发现导致眼外肌麻痹伴肋骨和椎骨异常

Ocieczek, Paulina; Oluonye, Ngozi; Méjécase, Cécile; Schiff, Elena; Tailor, Vijay; Moosajee, Mariya

Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics

特发性婴儿眼球震颤患儿的前瞻性研究——治疗和分子诊断

Aychoua, Nancy; Schiff, Elena; Malka, Samantha; Tailor, Vijay K; Chan, Hwei Wuen; Oluonye, Ngozi; Theodorou, Maria; Moosajee, Mariya

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

致病性NR2F1变异体导致发育性眼部表型,该表型在突变小鼠模型中得到重现。

Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluonye, Ngozi; Reddy, Maddy Ashwin; Clark, Elaine; Rosser, Elisabeth; Amati-Bonneau, Patrizia; Charif, Majida; Lenaers, Guy; Meunier, Isabelle; Defoort, Sabine; Vincent-Delorme, Catherine; Robson, Anthony G; Holder, Graham E; Jeanjean, Luc; Martinez-Monseny, Antonio; Vidal-Santacana, Mariona; Dominici, Chloé; Gaggioli, Cedric; Giordano, Nadia; Caleo, Matteo; Liu, Grant T; Webster, Andrew R; Studer, Michèle; Yu-Wai-Man, Patrick

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

幼年巴顿病(CLN3):详细的眼部表型、新发现、诊断延迟、症状伪装及治疗前景

Wright, Genevieve A; Georgiou, Michalis; Robson, Anthony G; Ali, Naser; Kalhoro, Ambreen; Holthaus, Sm Kleine; Pontikos, Nikolas; Oluonye, Ngozi; de Carvalho, Emanuel R; Neveu, Magella M; Weleber, Richard G; Michaelides, Michel

Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care

诺里氏病患者视力和听力丧失的影响:双感官诊所在患者护理中的优势

Sowden, Jane C; Kros, Corné J; Sirimanna, Tony; Pagarkar, Waheeda; Oluonye, Ngozi; Henderson, Robert H

Congenital cataract: a guide to genetic and clinical management

先天性白内障:遗传和临床管理指南

Bell, Suzannah J; Oluonye, Ngozi; Harding, Philippa; Moosajee, Mariya

Human Physiology: Human Physiology Illustrated by Numerous Engravings

人体生理学:图解人体生理学(附大量版画)

Harding, Philippa; Gore, Sri; Malka, Samantha; Rajkumar, Jayashree; Oluonye, Ngozi; Moosajee, Mariya