Søgeresultater - Shotelersuk, Vorasuk

Genetics and genomics in Thailand: challenges and opportunities af Shotelersuk, Vorasuk, Limwongse, Chanin, Mahasirimongkol, Surakameth

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Human asparagine synthetase associates with the mitotic spindle af Noree, Chalongrat, Monfort, Elena, Shotelersuk, Vorasuk

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Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internis... af Phowthongkum, Prasit, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing af Porntaveetus, Thantrira, Srichomthong, Chalurmpon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders af Caengprasath, Natarin, Theerapanon, Thanakorn, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

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A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia af Shotelersuk, Vorasuk, Jaruratanasirikul, Somchit, Sinthuwiwat, Thivaratana, Janjindamai, Waricha

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Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case repo... af Sangsin, Apiruk, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells af Norbnop, Phatchara, Ingrungruanglert, Praewphan, Israsena, Nipan, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Comparative transcriptome profiles of human dental pulp stem cells from maxillary and mandibular teeth af Faruangsaeng, Thira, Thaweesapphitak, Sermporn, Khamwachirapitak, Chompak, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

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Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome af Ausavarat, Surasawadee, Leoyklang, Petcharat, Vejchapipat, Paisarn, Chongsrisawat, Voranush, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I af Prommajan, Korrakot, Ausavarat, Surasawadee, Srichomthong, Chalurmpon, Puangsricharern, Vilavun, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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PDGFRa mutations in humans with isolated cleft palate af Rattanasopha, Sawitree, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Siriwan, Pichit, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy af Chaiyasap, Pongsathorn, Kulawonganunchai, Supasak, Srichomthong, Chalurmpon, Tongsima, Sissades, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report af Charnwichai, Pattaranatcha, Yeetong, Patra, Suphapeetiporn, Kanya, Supornsilchai, Vichit, Sahakitrungruang, Taninee, Shotelersuk, Vorasuk

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Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report af Sangsin, Apiruk, Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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

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Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review af Wejjakul, Witchuree, Chatmaitri, Swist, Wattanarojanaporn, Thongek, Pongkunakorn, Anuwat, Ittiwut, Chupong, Shotelersuk, Vorasuk

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A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents af Tongkobpetch, Siraprapa, Limpaphayom, Noppachart, Sangsin, Apiruk, Porntaveetus, Thantrira, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Erratum: Missing Sentence and Word af Wejjakul, Witchuree, Chatmaitri, Swist, Wattanarojanaporn, Thongek, Pongkunakorn, Anuwat, Ittiwut, Chupong, Shotelersuk, Vorasuk

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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 af Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Sangsin, Apiruk, Kovitvanitcha, Dool, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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