Deciphering the structural and functional impact of Q657L mutation in NLRC4 using computational methods

by Chear, Chai Teng, Ripen, Adiratna Mat, Mohamad, Saharuddin
Published 2022

Enzymatic inhibitory activity of Ficus deltoidea leaf extract on matrix metalloproteinase-2, 8 and 9

by Abu Bakar, Amirul Ridzuan, Ripen, Adiratna Mat, Merican, Amir Feisal, Mohamad, Saharuddin
Published 2019

Revealing chronic granulomatous disease in a patient with Williams-Beuren syndrome using whole exome sequencing

by Ripen, Adiratna Mat, Chiow, Mei Yee, Rama Rao, Prakash Rao, Mohamad, Saharuddin Bin
Published 2021

Analysis of synonymous codon usage bias in human monocytes, B, and T lymphocytes based on transcriptome data

by Ruzman, Muhammad Adib, Ripen, Adiratna Mat, Mirsafian, Hoda, Ridzwan, Nor Farrah Wahidah, Merican, Amir Feisal, Mohamad, Saharuddin Bin
Published 2021

Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing

by Koay, Bee Tee, Chiow, Mei Yee, Ismail, Jamiila, Fahmy, Norfarhana Khairul, Yee, Seow Yeing, Mustafa, Norhazlin, Arip, Masita, Ripen, Adiratna Mat, Mohamad, Saharuddin
Published 2022

A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation

by Chear, Chai Teng, Nallusamy, Revathy, Canna, Scott W., Chan, Kwai Cheng, Baharin, Mohd Farid, Hishamshah, Munirah, Ghani, Hamidah, Ripen, Adiratna Mat, Bin Mohamad, Saharuddin
Published 2020

Atypical presentation of severe fungal necrotizing fasciitis in a patient with X-Linked Agammaglobulinemia

by Chear, Chai Teng, Nallusamy, Revathy, Chan, Kwai Cheng, Mohd Tap, Ratna, Baharin, Mohd Farid, Syed Yahya, Sharifah Nurul Husna, Krishnan, Prasobhan Bala, Bin Mohamad, Saharuddin, Ripen, Adiratna Mat
Published 2021

A Novel De Novo NFKBIA missense mutation associated to ectodermal dysplasia with dysgammaglobulinemia

by Chear, Chai Teng, El Farran, Bader Abdul Kader, Sham, Marina, Ramalingam, Kavetha, Noh, Lokman Mohd, Ismail, Intan Hakimah, Chiow, Mei Yee, Baharin, Mohd Farid, Ripen, Adiratna Mat, Mohamad, Saharuddin
Published 2022

A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity

by Ripen, Adiratna Mat, Chear, Chai Teng, Baharin, Mohd Farid, Nallusamy, Revathy, Chan, Kwai Cheng, Kassim, Asiah, Choo, Chong Ming, Wong, Ke Juin, Fong, Siew Moy, Tan, Kah Kee, Nachiappan, Jeyaseelan P., Teo, Kai Ru, Chiow, Mei Yee, Hishamshah, Munirah, Ghani, Hamidah, Muralitharan, Rikeish R., Bin Mohamad, Saharuddin
Published 2021

Clinical and demographic pattern of Chronic Granulomatous Disease (CGD) from a multicenter perspective: Malaysia's experience over 26 years

by Noh, Lokman Mohd, Latiff, Amir Hamzah Abdul, Ismail, Intan Hakimah, Noah, Rahim Md, Wahab, Asrul Abdul, Abd Hamid, Intan Juliana, Ripen, Adiratna Mat, Abdullah, Nasuruddin B., Razali, Kamarul Azhar, Zainudin, Norzila, Bakon, Florence, Kok, Long Juan, Ali, Adli, Aziz, Bilkis Banu SAbd, Latif, Hasniah Abdul, Mohamad, Siti Mardhiana, Zainudeen, Zarina Thasneem, Hashim, Ilie Fadzilah, Sendut, Iean Hamzah, Nadarajaw, Thiyagar, Jamil, Faizah Mohamed, Ng, David C. E., Abidin, Mohd Azri Zainal
Published 2021