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Kavitha Rethanavelu

4PUBLICATIONS

23CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Developmental genetics (incl. sex determination)Haematological tumours

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Publications (4)

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|Nov 01, 2020

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki

|Mar 22, 2020

A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.

Brooke R Willis, Mianne Lee, Kavitha Rethanavelu

|Nov 23, 2019

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Kavitha Rethanavelu, Jasmine L F Fung, Jeffrey F T Chau

|Aug 11, 2019

Coffin-Lowry syndrome in Chinese.

Jasmine L F Fung, Kavitha Rethanavelu, Ho-Ming Luk

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Frequent Collaborators

2 joint publications

Ho-Ming Luk

2 joint publications

Brian H Y Chung

1 joint publications

Brooke R Willis

1 joint publications

Mianne Lee

1 joint publications

Toshiyuki Itai

1 joint publications

Kohei Hamanaka

1 joint publications

Matias Wagner

1 joint publications

Markus Ries

1 joint publications

Winnie P Ong

1 joint publications

Hui B Chew

Frequent Collaborators

2 joint publications

Ho-Ming Luk

2 joint publications

Brian H Y Chung

1 joint publications

Brooke R Willis

1 joint publications

Mianne Lee

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