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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia
Three novel mutations in the PORCN gene underlying focal dermal hypoplasia
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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

Leoyklang, P ; Suphapeetiporn, K ; Wananukul, S ; Shotelersuk, V

Clinical genetics, 2008-04, Vol.73 (4), p.373-379 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population
TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population
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TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population

Suphapeetiporn, K ; Tongkobpetch, S ; Siriwan, P ; Shotelersuk, V

Clinical genetics, 2007-11, Vol.72 (5), p.478-483 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome
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SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome

Suphapeetiporn, K ; Srichomthong, C ; Shotelersuk, V

Clinical genetics, 2011-04, Vol.79 (4), p.391-393 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Holocarboxylase synthetase deficiency: novel clinical and molecular findings
Holocarboxylase synthetase deficiency: novel clinical and molecular findings
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Holocarboxylase synthetase deficiency: novel clinical and molecular findings

Tammachote, R ; Janklat, S ; Tongkobpetch, S ; Suphapeetiporn, K ; Shotelersuk, V

Clinical genetics, 2010-07, Vol.78 (1), p.88-93 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Expanding the phenotypic spectrum of Caffey disease
Expanding the phenotypic spectrum of Caffey disease
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Expanding the phenotypic spectrum of Caffey disease

Suphapeetiporn, K ; Tongkobpetch, S ; Mahayosnond, A ; Shotelersuk, V

Clinical genetics, 2007-03, Vol.71 (3), p.280-284 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate
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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

Tongkobpetch, S ; Suphapeetiporn, K ; Siriwan, P ; Shotelersuk, V

International journal of oral and maxillofacial surgery, 2008-06, Vol.37 (6), p.550-553 [Periódico revisado por pares]

Amsterdam: Elsevier Ltd

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7
Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome
Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome
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Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome

Shotelersuk, V. ; Tongkobpetch, S.

Clinical and experimental dermatology, 2005-07, Vol.30 (4), p.419-421 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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8
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
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De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome

Shotelersuk, V. ; Janklat, S. ; Siriwan, P. ; Tongkobpetch, S.

Clinical and experimental dermatology, 2005-05, Vol.30 (3), p.282-285 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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9
ELF1 is associated with systemic lupus erythematosus in Asian populations
ELF1 is associated with systemic lupus erythematosus in Asian populations
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ELF1 is associated with systemic lupus erythematosus in Asian populations

JING YANG ; WANLING YANG ; KA WING LEE ; SIK NIN WONG ; LEUNG, Alexander Moon Ho ; LI, Xiang-Pei ; AVIHINGSANON, Yingyos ; RIANTHAVORN, Pornpimol ; DEEKAJORNDEJ, Thavatchai ; SUPHAPEETIPORN, Kanya ; SHOTELERSUK, Vorasuk ; BAUM, Larry ; HIRANKARN, Nattiya ; KWAN, Patrick ; TSZ LEUNG LEE ; HOK KUNG HO, Marco ; PUI WAH LEE, Pamela ; HING SANG WONG, Wilfred ; SHUAI ZENG ; JING ZHANG ; WONG, Chun-Ming ; OI LIN NG, Irene ; GARCIA-BARCELO, Maria-Mercè ; DONG QING YE ; CHERNY, Stacey S ; KWONG-HANG TAM, Paul ; PAK CHUNG SHAM ; CHAK SING LAU ; YU LUNG LAU ; YAN ZHANG ; PAN, Hai-Feng ; CHI CHIU MOK ; TAK MAO CHAN ; WONG, Raymond Woon Sing ; MO YIN MOK

Human molecular genetics, 2011-02, Vol.20 (3), p.601-607 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1
Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1
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Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1

Brantly, Mark ; Avila, Nilo A. ; Shotelersuk, Vorasuk ; Lucero, Cynthia ; Huizing, Marjan ; Gahl, William A.

Chest, 2000-01, Vol.117 (1), p.129-136 [Periódico revisado por pares]

Northbrook, IL: Elsevier Inc

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