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Brain & Development|September 6, 2021
Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathyDianah A Hadi, Ahmad R Mohamed, Kavitha Rethanavelu, et al.JIMD Reports|March 7, 2025
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion BabySiew Li Ting, Yusnita Yakob, Huzaimah Abdullah Sani, et al.Journal of Human Genetics|August 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, et al.American Journal of Medical Genetics. Part A|August 11, 2019
Coffin-Lowry syndrome in ChineseJasmine L F Fung, Kavitha Rethanavelu, Ho-Ming Luk, et al.American Journal of Medical Genetics. Part A|November 23, 2019
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndromeKavitha Rethanavelu, Jasmine L F Fung, Jeffrey F T Chau, et al.American Journal of Medical Genetics. Part A|March 22, 2020
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndromeBrooke R Willis, Mianne Lee, Kavitha Rethanavelu, et al.Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.Journal of Medical Genetics|February 2, 2021
Oncologist-led <i>BRCA</i> counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomesSook-Yee Yoon, Siu Wan Wong, Joanna Lim, et al.Pageof 1