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Refinado por: Base de dados/Biblioteca: EBSCOhost Academic Search Premier remover assunto: Science & Technology remover Genetics & Heredity remover
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1
Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy
Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy
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Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy

Urkasemsin, G. ; Pongpanich, M. ; Sariya, L. ; Kongcharoen, A. ; Buddhirongawatr, R. ; Rungarunlert, S. ; Ferreira, J. N. ; Chetruengchai, W. ; Phokaew, C. ; Srichomthong, C. ; Shotelersuk, V.

Animal genetics, 2021-10, Vol.52 (5), p.714-719 [Periódico revisado por pares]

Oxford: Wiley Subscription Services, Inc

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2
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes
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Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes

Chetruengchai, Wanna ; Shotelersuk, Vorasuk

Journal of human genetics, 2022-03, Vol.67 (3), p.137-142 [Periódico revisado por pares]

England: Nature Publishing Group

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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
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population
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Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population

Chamnanphon, Monpat ; Pongpanich, Monnat ; Suttichet, Thitima Benjachat ; Jantarabenjakul, Watsamon ; Torvorapanit, Pattama ; Putcharoen, Opass ; Sodsai, Pimpayao ; Phokaew, Chureerat ; Hirankarn, Nattiya ; Chariyavilaskul, Pajaree ; Shotelersuk, Vorasuk

Journal of human genetics, 2022-05, Vol.67 (5), p.295-301 [Periódico revisado por pares]

England: Nature Publishing Group

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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
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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7
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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8
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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9
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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10
A common and two novel GBA mutations in Thai patients with Gaucher disease
A common and two novel GBA mutations in Thai patients with Gaucher disease
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A common and two novel GBA mutations in Thai patients with Gaucher disease

Tammachote, Rachaneekorn ; Tongkobpetch, Siraprapa ; Srichomthong, Chalurmpon ; Phipatthanananti, Kampon ; Pungkanon, Suthipong ; Wattanasirichaigoon, Duangrurdee ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk

Journal of human genetics, 2013-09, Vol.58 (9), p.594-599 [Periódico revisado por pares]

England: Nature Publishing Group

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