Hasil Pencarian - Duangrurdee Wattanasirichaigoon

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  1. 1
    A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report

    A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report oleh Poomiporn Katanyuwong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2022-01-01
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  2. 2
    Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency

    Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency oleh Chalongchai Chalermwat, Thitipa Thosapornvichai, Laran T. Jensen, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2020-01-01
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  3. 3
    Identification of Alpha Thalassemia, RNF 213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome

    Identification of Alpha Thalassemia, RNF 213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome oleh Lunliya Thampratankul, Yusuke Okuno, Patcharee Komvilaisak, Duangrurdee Wattanasirichaigoon, Nongnuch Sirachainan

    Diterbitkan 2022-06-01
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  4. 4
    Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

    Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis oleh Rapeepat Thewamit, Chaiyos Khongkhatithum, Lunliya Thampratankul, Wuttichart Kamolvisit, Arthaporn Khongkrapan, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2023-08-01
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  5. 5
    Successful pregnancy outcome in Herlyn‐Werner‐Wunderlich syndrome with pyocolpos: A case report and literature review

    Successful pregnancy outcome in Herlyn‐Werner‐Wunderlich syndrome with pyocolpos: A case report and literature review oleh Chayada Tangshewinsirikul, Wirada Dulyaphat, Sanpon Diawtipsukon, Yada Tingthanatikul, Chonthicha Satirapod, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2020-11-01
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  6. 6
    A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

    A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie... oleh Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2022-04-01
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  7. 7
    Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand

    Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand oleh Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon

    Diterbitkan 2023-05-01
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  8. 8
    Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia

    Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia oleh Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan

    Diterbitkan 2022-07-01
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  9. 9
    Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years

    Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years oleh Nantiya Mongkollarp, Thipwimol Tim-Aroon, Chusak Okascharoen, Khunton Wichajarn, Jeeraparn Phosuwattanakul, Nalinee Chongviriyaphan, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2020-05-01
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  10. 10
    Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome

    Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome oleh Kirana Veenin, Duangrurdee Wattanasirichaigoon, Bhoom Suktitipat, Saisuda Noojarern, Patcharee Lertrit, Thipwimol Tim-Aroon, Supannee Kaewsutthi, Suporn Treepongkaruna

    Diterbitkan 2022-05-01
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  11. 11
    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. oleh Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon, Nithiwat Vatanavicharn, Pornswan Wasant, Vorasuk Shotelersuk, Suthipong Pangkanon, Chulaluck Kuptanon, Sumonta Chaisomchit, Yot Teerawattananon

    Diterbitkan 2015-01-01
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  12. 12
    Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial

    Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial oleh Nutta Nintao, Jittima Manonai, Rujira Wattanayingcharoenchai, Sommart Bumrungphuet, Wirada Hansahiranwadee, Wirada Dulyaphat, Werapath Somchit, Duangrurdee Wattanasirichaigoon, Maneerat Prakobpanich, Chayada Tangshewinsirikul

    Diterbitkan 2023-12-01
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  13. 13
    A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene

    A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene oleh Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas

    Diterbitkan 2022-04-01
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  14. 14
    Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease

    Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease oleh Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwan

    Diterbitkan 2023-12-01
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  15. 15
    Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

    Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects oleh Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath

    Diterbitkan 2019-09-01
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  16. 16
    Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

    Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients oleh Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2021-12-01
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  17. 17
    Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

    Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis oleh Supranee Thongpradit, Natini Jinawath, Natini Jinawath, Asif Javed, Asif Javed, Laran T. Jensen, Issarapa Chunsuwan, Kitiwan Rojnueangnit, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Meng-Shin Shiao, Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2020-12-01
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  18. 18
    Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

    Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand oleh Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti

    Diterbitkan 2019-09-01
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  19. 19
    Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1

    Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and... oleh Pharuhad Pongmee, Sanchawan Wittayakornrerk, Ramrada Lekwuttikarn, Sasikarn Pakdeeto, Piangor Watcharakuldilok, Chatchay Prempunpong, Thipwimol Tim-Aroon, Chawintee Puttanapitak, Piyawan Wattanasoontornsakul, Thitiporn Junhasavasdikul, Parith Wongkittichote, Parith Wongkittichote, Saisuda Noojarern, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2022-04-01
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  20. 20
    Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

    Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients oleh Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon

    Diterbitkan 2021-01-01
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