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Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation
Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation
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Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation

Porntaveetus, T ; Osathanon, T ; Nowwarote, N ; Pavasant, P ; Srichomthong, C ; Suphapeetiporn, K ; Shotelersuk, V

Oral diseases, 2018-05, Vol.24 (4), p.619-627 [Periódico revisado por pares]

Denmark: Wiley Subscription Services, Inc

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2
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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3
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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4
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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5
Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease
Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease
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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

Tammachote, R. ; Tongkobpetch, S. ; Desudchit, T. ; Suphapeetiporn, K. ; Shotelersuk, V.

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.33-36 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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6
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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7
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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8
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
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A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I

Prommajan, Korrakot ; Ausavarat, Surasawadee ; Srichomthong, Chalurmpon ; Puangsricharern, Vilavun ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk

Molecular vision, 2011-02, Vol.17, p.456-460 [Periódico revisado por pares]

United States: Molecular Vision

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9
Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations
Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations
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Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations

ANIKSTER, Y ; LUCERO, C ; THOENE, J ; SCHNEIDER, J. A ; GAHL, W. A ; JUANRU GUO ; HUIZING, M ; SHOTELERSUK, V ; BERNARDINI, I ; MCDOWELL, G ; IWATA, F ; KAISER-KUPFER, M. I ; JAFFE, R

Pediatric research, 2000, Vol.47 (1), p.17-23 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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10
Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)
Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)
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Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

Anikster, Yair ; Lucero, Cynthia ; Touchman, Jeffrey W. ; Huizing, Marjan ; McDowell, Geraldine ; Shotelersuk, Vorasuk ; Green, Eric D. ; Gahl, William A.

Molecular genetics and metabolism, 1999-02, Vol.66 (2), p.111-116 [Periódico revisado por pares]

United States: Elsevier Inc

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