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1دورية أكاديمية
المؤلفون: Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, Supavadee Jantasuwan, Kanokwan Santawong, Netchanok Leela-adisorn, Siraprapa Tongkobpetch, Chupong Ittiwut, Vitchayaporn Emarach Saengow, Wuttichart Kamolvisit, Ponghatai Boonsimma, Saknan Bongsebandhu-phubhakdi, Vorasuk Shotelersuk
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Sarinya Summa, Chupong Ittiwut, Pimchanok Kulsirichawaroj, Tanitnun Paprad, Surachai Likasitwattanakul, Oranee Sanmaneechai, Ponghatai Boonsimma, Kanya Suphapeetiporn, Vorasuk Shotelersuk
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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3
المؤلفون: Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, Ponghatai Boonsimma, Kanjana Prangphan, Mongkol Chanvanichtrakool
المصدر: Pediatric Neurology. 136:50-55
مصطلحات موضوعية: Phenotype, Developmental Neuroscience, Neurology, Neuronal Ceroid-Lipofuscinoses, Homozygote, Mutation, Pediatrics, Perinatology and Child Health, Rett Syndrome, Humans, Membrane Proteins, Neurology (clinical), Child, Thailand
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المؤلفون: Sarinya Summa, Chupong Ittiwut, Pimchanok Kulsirichawaroj, Tanitnun Paprad, Surachai Likasitwattanakul, Oranee Sanmaneechai, Ponghatai Boonsimma, Kanya Suphapeetiporn, Vorasuk Shotelersuk
مصطلحات موضوعية: Multidisciplinary
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd801c21df5550e0fc4280108b60a2c
https://doi.org/10.21203/rs.3.rs-2024714/v1 -
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المؤلفون: Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, Supavadee Jantasuwan, Kanokwan Santawong, Netchanok Leela-adisorn, Siraprapa Tongkobpetch, Chupong Ittiwut, Vitchayaporn Saengow, Wuttichart Kamolvisit, Ponghatai Boonsimma, Saknan Bongsebandhu-Phubhakdi, Vorasuk Shotelersuk
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::68f7b61e5694874ad03eb603ccc80588
https://doi.org/10.21203/rs.3.rs-1966853/v1 -
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المؤلفون: Vorasuk Shotelersuk, Thantrira Porntaveetus, Thanakorn Theerapanon, Chawan Manaspon, Ponghatai Boonsimma, Chureerat Phokaew, Kanokwan Sriwattanapong
المصدر: American Journal of Medical Genetics Part A. 185:3068-3073
مصطلحات موضوعية: Genetics, Microcephaly, Haplotype, Biology, Compound heterozygosity, medicine.disease, Phenotype, Hypotonia, Genotype, medicine, Global developmental delay, medicine.symptom, Allele, Genetics (clinical)
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7
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
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8Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability
المؤلفون: Ponghatai Boonsimma, Kanya Suphapeetiporn, Sathida Poonmaksatit, Tayard Desudchit, Vorasuk Shotelersuk, Chupong Ittiwut, Rungnapa Ittiwut
المصدر: Brain and Development. 43:490-494
مصطلحات موضوعية: Sanger sequencing, Genetics, Mutant, RNA, General Medicine, Biology, medicine.disease, Reverse transcription polymerase chain reaction, 03 medical and health sciences, symbols.namesake, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), symbols, medicine, Neurology (clinical), Haploinsufficiency, Gene, 030217 neurology & neurosurgery
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9
المؤلفون: Vorasuk Shotelersuk, Ponghatai Boonsimma, Kanya Suphapeetiporn, Kanokwan Boonyapisit, Oranee Sanmaneechai, Chupong Ittiwut, Chaiyos Khongkhatithum, Nalinee Pattrakornkul
المصدر: Neuromuscular Disorders. 30:851-858
مصطلحات موضوعية: Adult, Fatty Acid Desaturases, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Muscle Proteins, Compound heterozygosity, DNA sequencing, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Exome Sequencing, COLQ, medicine, Humans, Receptors, Cholinergic, Child, Myopathy, Gene, Genetics (clinical), Exome sequencing, Myasthenic Syndromes, Congenital, Electromyography, business.industry, Middle Aged, Thailand, Pedigree, RAPSN, Cross-Sectional Studies, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Acetylcholinesterase, Collagen, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Myasthenic syndromes
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10
المؤلفون: Kanya Suphapeetiporn, Vorasuk Shotelersuk, Sirorat Suwannachote, Chupong Ittiwut, Chureerat Phokaew, Ponghatai Boonsimma
المصدر: Brain and Development. 42:546-550
مصطلحات موضوعية: Microcephaly, biology, GABAA receptor, business.industry, GABRA5, Central nervous system, General Medicine, Bioinformatics, medicine.disease, White matter, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine.anatomical_structure, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, biology.protein, medicine, Missense mutation, Neurology (clinical), Global developmental delay, business, 030217 neurology & neurosurgery