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Refinado por: Base de dados/Biblioteca: EBSCOhost Academic Search Premier remover assunto: Science & Technology remover
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11
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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12
Postoperative radiotherapy timing, molecular subgroups and treatment outcomes of Thai pediatric patients with medulloblastoma
Postoperative radiotherapy timing, molecular subgroups and treatment outcomes of Thai pediatric patients with medulloblastoma
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Postoperative radiotherapy timing, molecular subgroups and treatment outcomes of Thai pediatric patients with medulloblastoma

Jaruthien, Thitiporn ; Nantavithya, Chonnipa ; Santisukwongchote, Sakun ; Shuangshoti, Shanop ; Techavichit, Piti ; Sosothikul, Darintr ; Amornfa, Jiraporn ; Shotelersuk, Kanjana Sato, Yasunori

PloS one, 2023-01, Vol.18 (1), p.e0271778-e0271778 [Periódico revisado por pares]

United States: Public Library of Science

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13
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand
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TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand

Sodsai, Pimpayao ; Ittiwut, Chupong ; Ruenjaiman, Vichaya ; Ittiwut, Rungnapa ; Jantarabenjakul, Watsamon ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk ; Hirankarn, Nattiya

Emerging infectious diseases, 2022-11, Vol.28 (11), p.2350-2352 [Periódico revisado por pares]

United States: Centers for Disease Control and Prevention

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14
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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15
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
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Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact

Boonsimma, Ponghatai ; Ittiwut, Chupong ; Kamolvisit, Wuttichart ; Ittiwut, Rungnapa ; Chetruengchai, Wanna ; Phokaew, Chureerat ; Srichonthong, Chalurmpon ; Poonmaksatit, Sathida ; Desudchit, Tayard ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk

European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.179-187 [Periódico revisado por pares]

England: Nature Publishing Group

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16
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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17
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand
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An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

Thiboonboon, Kittiphong ; Leelahavarong, Pattara ; Wattanasirichaigoon, Duangrurdee ; Vatanavicharn, Nithiwat ; Wasant, Pornswan ; Shotelersuk, Vorasuk ; Pangkanon, Suthipong ; Kuptanon, Chulaluck ; Chaisomchit, Sumonta ; Teerawattananon, Yot Mihalopoulos, Cathy

PloS one, 2015-08, Vol.10 (8), p.e0134782-e0134782 [Periódico revisado por pares]

United States: Public Library of Science

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18
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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19
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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20
Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy
Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy
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Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy

Okumura, Naoki ; Puangsricharern, Vilavun ; Jindasak, Raina ; Koizumi, Noriko ; Komori, Yuya ; Ryousuke, Hayashi ; Nakahara, Makiko ; Nakano, Masakazu ; Adachi, Hiroko ; Tashiro, Kei ; Yoshii, Kengo ; Chantaren, Patchima ; Ittiwut, Rungnapa ; Shotelersuk, Vorasuk ; Suphapeetiporn, Kanya

Eye (London), 2020-05, Vol.34 (5), p.880-885 [Periódico revisado por pares]

England: Nature Publishing Group

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