TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population von Suphapeetiporn, K, Tongkobpetch, S, Siriwan, P, Shotelersuk, V

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Holocarboxylase synthetase deficiency: novel clinical and molecular findings von Tammachote, R, Janklat, S, Tongkobpetch, S, Suphapeetiporn, K, Shotelersuk, V

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Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome von Amarinthnukrowh, P., Ittiporn, S., Tongkobpetch, S., Chatchatee, P., Sosothikul, D., Shotelersuk, V., Suphapeetiporn, K.

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Expanding the phenotypic spectrum of Caffey disease von Suphapeetiporn, K, Tongkobpetch, S, Mahayosnond, A, Shotelersuk, V

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Pathogenic mechanism of mutations in the thyroid hormone receptor β gene von Pongjantarasatian, S., Wacharasindhu, S., Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V.

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Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate von Tongkobpetch, S, Suphapeetiporn, K, Siriwan, P, Shotelersuk, V

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Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease von Tammachote, R., Tongkobpetch, S., Desudchit, T., Suphapeetiporn, K., Shotelersuk, V.

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Clinical and Molecular Characteristics of Thai Families with Autosomal Recessive Chronic Granulomatous Disease von Voraphani, N, Chatchatee, P, Ngamphaiboon, J, Tongkobpetch, S, Suphapeetiporn, K, Shotelersuk, V

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Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome von Shotelersuk, V., Tongkobpetch, S.

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De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome von Shotelersuk, V., Janklat, S., Siriwan, P., Tongkobpetch, S.

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p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease von Amarinthnukrowh, Pramuk, Tongkobpetch, Siraprapa, Kongpatanayothin, Apichai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Experimental dermatology times Concise report: Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Huenermann-Happle syndrome von Shotelersuk, V, Tongkobpetch, S

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Short Report: Expanding the phenotypic spectrum of Caffey disease von Suphapeetiporn, K, Tongkobpetch, S, Mahayosnond, A, Shotelersuk, V

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Experimental dermatology times Concise report: De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome von Shotelersuk, V, Janklat, S, Siriwan, P, Tongkobpetch, S

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FGFR2 mutations among Thai children with Crouzon and Apert syndromes von Shotelersuk, Vorasuk, Mahatumarat, Charan, Ittiwut, Chupong, Rojvachiranonda, Nond, Srivuthana, Sumarlee, Wacharasindhu, Suthipong, Tongkobpetch, Siraprapa

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Nonsense Mutations of the CYBB Gene in Two Thai Families with X-linked Chronic Granulomatous Disease von Vilaiphan, Prapaporn, Chatchatee, Pantipa, Ngamphaiboon, Jarungchit, Tongkobpetch, Siraprapa, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta von Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk

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Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic–Pharmacogenetic Model of HIV-infected Patients in Thailand von Chaivichacharn, Piyawat, Avihingsanon, Anchalee, Manosuthi, Weerawat, Ubolyam, Sasiwimol, Tongkobpetch, Siraprapa, Shotelersuk, Vorasuk, Punyawudho, Baralee

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Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B1502 allele in Thai population von Locharernkul, Chaichon, Loplumlert, Jakrin, Limotai, Chusak, Korkij, Wiwat, Desudchit, Tayard, Tongkobpetch, Siraprapa, Kangwanshiratada, Oratai, Hirankarn, Nattiya, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants von Chokvithaya, Suphalak, Caengprasath, Natarin, Buasong, Aayalida, Jantasuwan, Supavadee, Santawong, Kanokwan, Leela-adisorn, Netchanok, Tongkobpetch, Siraprapa, Ittiwut, Chupong, Saengow, Vitchayaporn Emarach, Kamolvisit, Wuttichart, Boonsimma, Ponghatai, Bongsebandhu-phubhakdi, Saknan, Shotelersuk, Vorasuk

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