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1
Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome
Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome
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Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome

Amarinthnukrowh, P. ; Ittiporn, S. ; Tongkobpetch, S. ; Chatchatee, P. ; Sosothikul, D. ; Shotelersuk, V. ; Suphapeetiporn, K.

Scandinavian journal of immunology, 2013-01, Vol.77 (1), p.69-74 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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2
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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3
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
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Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

Yeetong, Patra ; Chunharas, Chaipat ; Pongpanich, Monnat ; Bennett, Mark F ; Srichomthong, Chalurmpon ; Pasutharnchat, Nath ; Suphapeetiporn, Kanya ; Bahlo, Melanie ; Shotelersuk, Vorasuk

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.343-348 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population
Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population
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Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population

Wankaew, Natnicha ; Chariyavilaskul, Pajaree ; Chamnanphon, Monpat ; Assawapitaksakul, Adjima ; Chetruengchai, Wanna ; Pongpanich, Monnat ; Shotelersuk, Vorasuk Al-Eitan, Laith

PloS one, 2022-02, Vol.17 (2), p.e0263621-e0263621 [Periódico revisado por pares]

United States: Public Library of Science

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5
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development
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Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

Konjikusic, Mia J ; Yeetong, Patra ; Boswell, Curtis W ; Lee, Chanjae ; Roberson, Elle C ; Ittiwut, Rungnapa ; Suphapeetiporn, Kanya ; Ciruna, Brian ; Gurnett, Christina A ; Wallingford, John B ; Shotelersuk, Vorasuk ; Gray, Ryan S Pazour, Gregory J.

PLoS genetics, 2018-11, Vol.14 (11), p.e1007817-e1007817 [Periódico revisado por pares]

United States: Public Library of Science

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6
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
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Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

Chaiyasap, Pongsathorn ; Ittiwut, Chupong ; Srichomthong, Chalurmpon ; Sangsin, Apiruk ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk

BMC medical genetics, 2017-09, Vol.18 (1), p.102-102, Article 102 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
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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

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

BMC medical genetics, 2018-07, Vol.19 (1), p.117-117, Article 117 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy
Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy
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Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy

Chaiyasap, Pongsathorn ; Kulawonganunchai, Supasak ; Srichomthong, Chalurmpon ; Tongsima, Sissades ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk Ballestar, Esteban

PloS one, 2014-06, Vol.9 (6), p.e100191 [Periódico revisado por pares]

United States: Public Library of Science

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9
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort
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Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort

Tengsujaritkul, Maliwan ; Suratannon, Narissara ; Ittiwut, Chupong ; Ittiwut, Rungnapa ; Chatchatee, Pantipa ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk ; Candotti, Fabio Candotti, Fabio

Pediatric allergy and immunology, 2022-01, Vol.33 (1), p.e13701-n/a [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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10
PDGFRa mutations in humans with isolated cleft palate
PDGFRa mutations in humans with isolated cleft palate
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PDGFRa mutations in humans with isolated cleft palate

RATTANASOPHA, Sawitree ; TONGKOBPETCH, Siraprapa ; SRICHOMTHONG, Chalurmpon ; SIRIWAN, Pichit ; SUPHAPEETIPORN, Kanya ; SHOTELERSUK, Vorasuk

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1058-1062 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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