Risultati della ricerca - Chalurmpon Srichomthong

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of <i>POLG</i> c.3286C>T Variant di Kanokwan Sriwattanapong, Kitiwan Rojnueangnit, Thanakorn Theerapanon, Chalurmpon Srichomthong, Thantrira Porntaveetus, Vorasuk Shotelersuk

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The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report di Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk

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Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand di Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk

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