Kavitha Rethanavelu

Publication Activity (10 Years)

Years Active: 2019-2020
Publications (10 Years): 4

Top Topics

Klebsiella Pneumoniae

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Brooke R Willis, Brian Hon-Yin Chung, Kavitha Rethanavelu, Jasmine L F Fung, Rosanna M S Wong, Peter Hui, Kit S Yeung, Ivan F M Lo, Brian Hon-Yin Chung
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome. American journal of medical genetics. Part A 182 (6) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Jasmine L F Fung, Kavitha Rethanavelu, Ho-Ming Luk, Matthew S P Ho, Ivan F M Lo, Brian Hon-Yin Chung
Coffin-Lowry syndrome in Chinese. American journal of medical genetics. Part A 179 (10) (2019)
Kavitha Rethanavelu, Jasmine L F Fung, Jeffrey F T Chau, Steven L C Pei, Claudia C Y Chung, Christopher C Y Mak, Ho-Ming Luk, Brian H Y Chung
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome. American journal of medical genetics. Part A 182 (2) (2019)