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Koay, Bee Tee and Chiow, Mei Yee and Ismail, Jamiila and Fahmy, Norfarhana Khairul and Yee, Seow Yeing and Mustafa, Norhazlin and Arip, Masita and Ripen, Adiratna Mat and Mohamad, Saharuddin (2022) Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing. Molecular Medicine Reports, 26 (6). ISSN 1791-2997, DOI https://doi.org/10.3892/mmr.2022.12882.
Chear, Chai Teng and El Farran, Bader Abdul Kader and Sham, Marina and Ramalingam, Kavetha and Noh, Lokman Mohd and Ismail, Intan Hakimah and Chiow, Mei Yee and Baharin, Mohd Farid and Ripen, Adiratna Mat and Mohamad, Saharuddin (2022) A Novel De Novo NFKBIA missense mutation associated to ectodermal dysplasia with dysgammaglobulinemia. Genes, 13 (10). ISSN 2073-4425, DOI https://doi.org/10.3390/genes13101900.
Ripen, Adiratna Mat and Chiow, Mei Yee and Rama Rao, Prakash Rao and Mohamad, Saharuddin Bin (2021) Revealing chronic granulomatous disease in a patient with Williams-Beuren syndrome using whole exome sequencing. Frontiers in Immunology, 12. ISSN 1664-3224, DOI https://doi.org/10.3389/fimmu.2021.778133.
Ripen, Adiratna Mat and Chear, Chai Teng and Baharin, Mohd Farid and Nallusamy, Revathy and Chan, Kwai Cheng and Kassim, Asiah and Choo, Chong Ming and Wong, Ke Juin and Fong, Siew Moy and Tan, Kah Kee and Nachiappan, Jeyaseelan P. and Teo, Kai Ru and Chiow, Mei Yee and Hishamshah, Munirah and Ghani, Hamidah and Muralitharan, Rikeish R. and Bin Mohamad, Saharuddin (2021) A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity. Clinical and Experimental Immunology, 206 (2). pp. 119-128. ISSN 0009-9104, DOI https://doi.org/10.1111/cei.13626.
