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List of works by Manop Pithukpakorn

A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization

scientific article published on 9 April 2010

A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation

scientific article

Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.

scientific article published on January 2006

Clinical outcome and laboratory markers for predicting disease activity in patients with disseminated opportunistic infections associated with anti-interferon-γ autoantibodies

scientific article published on 25 April 2019

Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient

scientific article published on 21 May 2018

Disorders of pyruvate metabolism and the tricarboxylic acid cycle.

scientific article

Factors associated with acquired Anti IFN- γ autoantibody in patients with nontuberculous mycobacterial infection

scientific article

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

scientific article published on 5 April 2006

HLA-DRB1 and HLA-DQB1 Are Associated with Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies

scientific article published on 26 May 2015

Hereditary Leiomyomatosis and Renal Cell Cancer

scientific article

High Frequency of KRAS Codon 146 and FBXW7 Mutations in Thai Patients with Stage II-III Colon Cancer

scientific article published on 01 August 2019

Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome

scientific article published on 13 July 2017

Mycophenolic acid AUC in Thai kidney transplant recipients receiving low dose mycophenolate and its association with UGT2B7 polymorphisms

scientific article published on 5 December 2014

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita

scientific article

Precision medicine in Thailand

scientific article published on 19 March 2019

Six novel ATP7B mutations in Thai patients with Wilson disease

scientific article published on 27 October 2010

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene

article

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