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Refinado por: assunto: Mutation remover EBSCOhost Academic Search Premier remover assunto: Science & Technology remover
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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
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
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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4
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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5
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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6
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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7
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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8
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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9
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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10
Reduced ELANE and SLPI expression compromises dental pulp cell activity
Reduced ELANE and SLPI expression compromises dental pulp cell activity
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Reduced ELANE and SLPI expression compromises dental pulp cell activity

Sriwattanapong, Kanokwan ; Sa‐Ard‐Iam, Noppadol ; Boonprakong, Lawan ; Subbalekha, Keskanya ; Trachoo, Vorapat ; Suratannon, Narissara ; Porntaveetus, Thantrira ; Shotelersuk, Vorasuk

Cell proliferation, 2021-11, Vol.54 (11), p.e13132-n/a [Periódico revisado por pares]

Chichester: John Wiley & Sons, Inc

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