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1دورية أكاديمية
المؤلفون: Chupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, Tetsuro Matsuhashi, Masaru Shimura, Yohei Sugiyama, Takanori Onuki, Akira Ohtake, Kei Murayama, Nithiwat Vatanavicharn, Waralee Dejputtawat, Nitchanund Tantisirivit, Phawin Kor-anantakul, Wuttichart Kamolvisit, Kanya Suphapeetiporn, Vorasuk Shotelersuk
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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2دورية أكاديمية
المؤلفون: 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
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: 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
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: Lysosomal strorage disorder, Pompe disease, Glycogen storage disease type II, Acid alpha glucosidase, GAA, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-019-0878-8Test; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Brain anomalies, Osteogenesis imperfecta, WNT1, Mutation, Phenotype, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0639-0Test; https://doaj.org/toc/1471-2350Test
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5دورية أكاديمية
المؤلفون: Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon, Nithiwat Vatanavicharn, Pornswan Wasant, Vorasuk Shotelersuk, Suthipong Pangkanon, Chulaluck Kuptanon, Sumonta Chaisomchit, Yot Teerawattananon
المصدر: PLoS ONE, Vol 10, Iss 8, p e0134782 (2015)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4530882?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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6دورية أكاديمية
المؤلفون: Tim Phetthong (11861754), Thipwimol Tim-Aroon (9747119), Arthaporn Khongkraparn (11861757), Saisuda Noojarern (11861760), Chulaluck Kuptanon (781815), Khunton Wichajarn (9949588), Achara Sathienkijkanchai (11861763), Kanya Suphapeetiporn (580999), Pimlak Charoenkwan (756262), Adisak Tantiworawit (669578), Naruwan Noentong (11861766), Duangrurdee Wattanasirichaigoon (9949612)
مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Pharmacology, Cancer, Science Policy, Computational Biology, Biological Sciences not elsewhere classified, Asian, GBA, GBAP, L444P, p.L483P, Recombinant allele, Rec1a, Prevalence
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7
المؤلفون: Chulaluck, Kuptanon, Verasak, Thamkunanon, Chalurmpon, Srichomthong, Thanakorn, Theerapanon, Kanya, Suphapeetiporn, Thantrira, Porntaveetus, Vorasuk, Shotelersuk
المصدر: Clinical geneticsREFERENCES. 102(3)
مصطلحات موضوعية: Mutation, Inheritance Patterns, Humans, Genes, Recessive, Osteogenesis Imperfecta, Collagen Type I, Bone Morphogenetic Protein 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::46d0ce892d94046cabe6781e0bef568cTest
https://pubmed.ncbi.nlm.nih.gov/35703132Test -
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المؤلفون: Pattara Wiromrat, Prasit Phowthongkum, Vorasuk Shotelersuk, Wanna Chetruengchai, Chureerat Phokaew, Duangrurdee Wattanasirichaigoon, Chupong Ittiwut, Kitiwan Rojnueangnit, Mongkol Chanvanichtrakool, Ponghatai Boonsimma, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Chutima Phuaksaman, Adjima Assawapitaksakul, Chalurmpon Srichomthong, Wuttichart Kamolvisit, Chulaluck Kuptanon
المصدر: Clinical Genetics. 100:100-105
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Critical Illness, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, Age groups, Rapid dna, Exome Sequencing, Genetics, Humans, Medicine, Exome, Genetic Testing, Pathology, Molecular, Medical diagnosis, Child, Genetics (clinical), Exome sequencing, Adult patients, business.industry, Critically ill, Infant, Newborn, Infant, Middle Aged, Thailand, 030104 developmental biology, Child, Preschool, Etiology, Female, business, Developed country
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd22f8e28bb96722dfc07469b29e8610Test
https://doi.org/10.1111/cge.13963Test -
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المؤلفون: Duangrurdee Wattanasirichaigoon, Naruwan Noentong, Thipwimol Tim-Aroon, Adisak Tantiworawit, Tim Phetthong, Achara Sathienkijkanchai, Arthaporn Khongkraparn, Khunton Wichajarn, Kanya Suphapeetiporn, Pimlak Charoenkwan, Chulaluck Kuptanon, Saisuda Noojarern
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)مصطلحات موضوعية: Disease, L444P, Recombinant allele, Prevalence, Medicine, Humans, Pharmacology (medical), Genetics (clinical), Genetics, GBAP, Gaucher Disease, Asian, business.industry, Research, General Medicine, Thailand, Phenotype, p.L483P, Mutation, Rec1a, Glucosylceramidase, GBA, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ba7ee097ca7e77b20255651272145eTest
https://doi.org/10.1186/s13023-021-02151-2Test -
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المؤلفون: Duangrurdee Wattanasirichaigoon, Kitiwan Rojnueangnit, Suthipong Pangkanon, Thipwimol Tim-Aroon, Saisuda Noojaroen, Ratana Charoenwattanasatien, Voraratt Champattanachai, Jisnuson Svasti, Lukana Ngiwsara, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Arthaporn Khongkraparn, Chulaluck Kuptanon
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
BMC Medical Geneticsمصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, 030105 genetics & heredity, medicine.disease_cause, Exon, Sequence Analysis, Protein, Chlorocebus aethiops, Glycogen storage disease type II, Coding region, GAA, Pathology, Molecular, Genetics (clinical), Genetics, education.field_of_study, Mutation, Pompe disease, Thailand, COS Cells, Acid alpha-glucosidase, Female, Research Article, lcsh:Internal medicine, lcsh:QH426-470, Population, Biology, 03 medical and health sciences, Asian People, Lysosomal strorage disorder, medicine, Animals, Humans, Enzyme Replacement Therapy, Genetic Predisposition to Disease, Allele, education, lcsh:RC31-1245, Gene, Acid alpha glucosidase, Alleles, Base Sequence, Infant, alpha-Glucosidases, Cardiomyopathy, Hypertrophic, medicine.disease, lcsh:Genetics, 030104 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7025b4896632a2cd016cfa1158bf5c67Test
http://link.springer.com/article/10.1186/s12881-019-0878-8Test