検索結果 - Koon Wing Chan

Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report 著者: Ming Hin Chung, Gilbert T. Chua, Daniel Leung, Koon Wing Chan, John Nicholls, Yu Lung Lau

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Circulating annexin A5 levels after atrial switch for transposition of the great arteries: relationship with ventricular deformation and geometry. 著者: Clare T M Lai, Pak-cheong Chow, Sophia J Wong, Koon-wing Chan, Yiu-fai Cheung

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Transmembrane 29 <i>(Tmem29)</i>, a Newly Identified Molecule Showed Downregulation in Hypoxic-Ischemic Brain Damage 著者: Hing-Wai Tsang, Inderjeet Bhatia, Koon-Wing Chan, Godfrey Chi-Fung Chan, Patrick Ip, Pik-To Cheung

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A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection 著者: Leonore Greybe, Daniel Leung, Nicole Wieselthaler, David M le Roux, Koon Wing Chan, Yu Lung Lau, Brian Eley

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The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China 著者: Zhou Shu, Yue Zhang, Tongxin Han, Yan Li, Yurong Piao, Fei Sun, Jin Ma, Wenxiu Mo, Jiapeng Sun, Koon-Wing Chan, Wanling Yang, Yu-Lung Lau, Huawei Mao, Huawei Mao

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Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children 著者: Pamela P. Lee, Pamela P. Lee, Mongkol Lao-araya, Jing Yang, Koon-Wing Chan, Haiyan Ma, Lim-Cho Pei, Lin Kui, Huawei Mao, Wanling Yang, Xiaodong Zhao, Muthita Trakultivakorn, Yu-Lung Lau, Yu-Lung Lau

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Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype 著者: Roukaya Yaakoubi, Roukaya Yaakoubi, Najla Mekki, Najla Mekki, Amel Ben Chehida, Amel Ben Chehida, Ansem Benhammadi, Koon-Wing Chan, Daniel Leung, Charfeddine Gharsallah, Charfeddine Gharsallah, Fatma Zahra Guerfali, Mohamed-Ridha Barbouche, Yu Lung Lau, Meriem Ben-Ali, Imen Ben-Mustapha, Imen Ben-Mustapha

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Diagnostic challenge in a series of eleven patients with hyper IgE syndromes 著者: Roukaya Yaakoubi, Roukaya Yaakoubi, Najla Mekki, Najla Mekki, Imen Ben-Mustapha, Imen Ben-Mustapha, Leila Ben-Khemis, Asma Bouaziz, Ilhem Ben Fraj, Jamel Ammar, Agnès Hamzaoui, Hamida Turki, Lobna Boussofara, Mohamed Denguezli, Samir Haddad, Monia Ouederni, Mohamed Bejaoui, Koon Wing Chan, Yu Lung Lau, Fethi Mellouli, Mohamed-Ridha Barbouche, Mohamed-Ridha Barbouche, Meriem Ben-Ali

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A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency 著者: Brahim Belaid, Brahim Belaid, Koon-Wing Chan, Lydia Lamara Mahammed, Lydia Lamara Mahammed, Daniel Leung, Sara Makhloufi, Sara Makhloufi, Fadila Bendaoud, Fadila Bendaoud, Hassiba Sakhri, Lilya Meriem Berkani, Lilya Meriem Berkani, Ines Allam, Ines Allam, Fatma Merah, Hadda Baaziz, Hadda Baaziz, Bernice Lo, Bernice Lo, Jaime Sou Rosa Duque, Yu Lung Lau, Reda Djidjik, Reda Djidjik

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Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacil... 著者: Qin Ying Lim, Qin Ying Lim, Daniel Leung, Crystal K. Lam, Xingtian Yang, Kai N. Cheong, Kai N. Cheong, Andrew K. H. Yik, Jing Yang, Koon-Wing Chan, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Miyuki Tsumura, Elaine Y. L. Au, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Satoshi Okada, Yu Lung Lau, Yu Lung Lau, Yu Lung Lau

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Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India 著者: Amit Rawat, Pandiarajan Vignesh, Murugan Sudhakar, Madhubala Sharma, Deepti Suri, Ankur Jindal, Anju Gupta, Jitendra Kumar Shandilya, Sathish Kumar Loganathan, Gurjit Kaur, Sanchi Chawla, Pratap Kumar Patra, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Vaishali Aggarwal, Prasad Taur, Ambreen Pandrowala, Vijaya Gowri, Mukesh Desai, Manasi Kulkarni, Gauri Hule, Umair Bargir, Priyanka Kambli, Manisha Madkaikar, Sagar Bhattad, Chetan Ginigeri, Harish Kumar, Ananthvikas Jayaram, Deenadayalan Munirathnam, Meena Sivasankaran, Revathi Raj, Ramya Uppuluri, Fouzia Na, Biju George, Harsha Prasada Lashkari, Manas Kalra, Anupam Sachdeva, Shishir Seth, Tapas Sabui, Aman Gupta, Karin van Leeuwen, Martin de Boer, Koon Wing Chan, Kohsuke Imai, Kohsuke Imai, Osamu Ohara, Shigeaki Nonoyama, Yu Lung Lau, Surjit Singh

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Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India 著者: Pandiarajan Vignesh, Amit Rawat, Rajni Kumrah, Ankita Singh, Anjani Gummadi, Madhubala Sharma, Anit Kaur, Johnson Nameirakpam, Ankur Jindal, Deepti Suri, Anju Gupta, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Kaushal Sharma, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Pandrowala, Aparna Dalvi, Neha Jodhawat, Priyanka Kambli, Manisha Rajan Madkaikar, Sagar Bhattad, Stalin Ramprakash, Raghuram CP, Ananthvikas Jayaram, Meena Sivasankaran, Deenadayalan Munirathnam, Sarath Balaji, Aruna Rajendran, Amita Aggarwal, Komal Singh, Fouzia Na, Biju George, Ankit Mehta, Harsha Prasada Lashkari, Ramya Uppuluri, Revathi Raj, Sandip Bartakke, Kirti Gupta, Sreejesh Sreedharanunni, Yumi Ogura, Tamaki Kato, Kohsuke Imai, Kohsuke Imai, Koon Wing Chan, Daniel Leung, Osamu Ohara, Shigeaki Nonoyama, Michael Hershfield, Yu-Lung Lau, Surjit Singh

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Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency 著者: Anderson Dik Wai Luk, Pamela P. Lee, Huawei Mao, Huawei Mao, Koon-Wing Chan, Xiang Yuan Chen, Tong-Xin Chen, Jian Xin He, Nadia Kechout, Deepti Suri, Yin Bo Tao, Yong Bin Xu, Li Ping Jiang, Woei Kang Liew, Orathai Jirapongsananuruk, Tassalapa Daengsuwan, Anju Gupta, Surjit Singh, Amit Rawat, Amir Hamzah Abdul Latiff, Anselm Chi Wai Lee, Lynette P. Shek, Thi Van Anh Nguyen, Tek Jee Chin, Yin Hsiu Chien, Zarina Abdul Latiff, Thi Minh Huong Le, Nguyen Ngoc Quynh Le, Bee Wah Lee, Qiang Li, Dinesh Raj, Mohamed-Ridha Barbouche, Meow-Keong Thong, Maria Carmen D. Ang, Xiao Chuan Wang, Chen Guang Xu, Hai Guo Yu, Hsin-Hui Yu, Tsz Leung Lee, Felix Yat Sun Yau, Wilfred Hing-Sang Wong, Wenwei Tu, Wenwei Tu, Wangling Yang, Wangling Yang, Patrick Chun Yin Chong, Marco Hok Kung Ho, Yu Lung Lau, Yu Lung Lau

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Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity 著者: Koon-Wing Chan, Chung-Yin Wong, Daniel Leung, Xingtian Yang, Susanna F. S. Fok, Priscilla H. S. Mak, Lei Yao, Wen Ma, Huawei Mao, Xiaodong Zhao, Weiling Liang, Surjit Singh, Mohamed-Ridha Barbouche, Jian-Xin He, Li-Ping Jiang, Woei-Kang Liew, Minh Huong Thi Le, Dina Muktiarti, Fatima Johanna Santos-Ocampo, Reda Djidjik, Brahim Belaid, Intan Hakimah Ismail, Amir Hamzah Abdul Latiff, Way Seah Lee, Tong-Xin Chen, Jinrong Liu, Runming Jin, Xiaochuan Wang, Yin Hsiu Chien, Hsin-Hui Yu, Dinesh Raj, Revathi Raj, Jenifer Vaughan, Michael Urban, Sylvia van den Berg, Brian Eley, Anselm Chi-Wai Lee, Mas Suhaila Isa, Elizabeth Y. Ang, Bee Wah Lee, Bee Wah Lee, Allen Eng Juh Yeoh, Allen Eng Juh Yeoh, Lynette P. Shek, Lynette P. Shek, Nguyen Ngoc Quynh Le, Van Anh Thi Nguyen, Anh Phan Nguyen Lien, Regina D. Capulong, Joanne Michelle Mallillin, Jose Carlo Miguel M. Villanueva, Karol Anne B. Camonayan, Michelle De Vera, Roxanne J. Casis-Hao, Rommel Crisenio M. Lobo, Ruby Foronda, Vicky Wee Eng Binas, Soraya Boushaki, Soraya Boushaki, Nadia Kechout, Gun Phongsamart, Siriporn Wongwaree, Chamnanrua Jiratchaya, Mongkol Lao-Araya, Muthita Trakultivakorn, Narissara Suratannon, Orathai Jirapongsananuruk, Teerapol Chantveerawong, Wasu Kamchaisatian, Lee Lee Chan, Mia Tuang Koh, Ke Juin Wong, Siew Moy Fong, Meow-Keong Thong, Zarina Abdul Latiff, Lokman Mohd Noh, Lokman Mohd Noh, Rajiva de Silva, Zineb Jouhadi, Khulood Al-Saad, Pandiarajan Vignesh, Ankur Kumar Jindal, Amit Rawat, Anju Gupta, Deepti Suri, Jing Yang, Elaine Yuen-Ling Au, Janette Siu-Yin Kwok, Siu-Yuen Chan, Wayland Yuk-Fun Hui, Gilbert T. Chua, Jaime Rosa Duque, Kai-Ning Cheong, Patrick Chun Yin Chong, Marco Hok Kung Ho, Tsz-Leung Lee, Wilfred Hing-Sang Wong, Wanling Yang, Pamela P. Lee, Wenwei Tu, Xi-Qiang Yang, Yu Lung Lau

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