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1دورية أكاديمية
المؤلفون: Prakarn Tovichien, Krittin Rattananont, Narathorn Kulthamrongsri, Mongkol Chanvanichtrakool, Buranee Yangthara
المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
مصطلحات موضوعية: Case report, cogenital central hypoventilation syndrome, CCHS, neonatal apnea, PHOX2B, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2431Test
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdf2a06afaf9f96a7efd3a69c1797b85Test
https://doi.org/10.1016/j.pediatrneurol.2022.08.003Test -
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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: Wanna Thongnoppakhun, Mongkol Chanvanichtrakool, Pantaree Laosuebsakulthai, Surachai Likasitwattanakul, Theerapong Pho-iam
المصدر: Journal of Health Science and Medical Research.
مصطلحات موضوعية: Sanger sequencing, medicine.medical_specialty, Mutation, business.industry, PRRT2 Gene, Retrospective cohort study, General Medicine, Paroxysmal dyskinesia, Gene mutation, musculoskeletal system, medicine.disease_cause, symbols.namesake, Internal medicine, cardiovascular system, symbols, medicine, business, PRRT2, Complete response
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a4efff3959180d52b85fda0d83f890cTest
https://doi.org/10.31584/jhsmr.2021853Test -
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المصدر: Journal of Health Science and Medical Research.
مصطلحات موضوعية: Genetics, Sanger sequencing, Mutation, business.industry, General Medicine, medicine.disease, medicine.disease_cause, Genetic analysis, Phenotype, symbols.namesake, Dravet syndrome, Gene duplication, symbols, Medicine, Multiplex, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cec781e460e3b05150299d21684372d4Test
https://doi.org/10.31584/jhsmr.2021838Test -
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المؤلفون: Prakarn Tovichien, Krittin Rattananont, Narathorn Kulthamrongsri, Mongkol Chanvanichtrakool, Buranee Yangthara
المصدر: BMC pediatrics. 22(1)
مصطلحات موضوعية: Adult, Homeodomain Proteins, Apnea, Pediatrics, Perinatology and Child Health, Mutation, Infant, Newborn, Humans, Female, Hypoventilation, Sleep Apnea, Central, Infant, Newborn, Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8612d3043661993f0e5eb27bc66dae77Test
https://pubmed.ncbi.nlm.nih.gov/35209861Test -
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المؤلفون: Kitiwan Rojnueangnit, Chalurmpon Srichomthong, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Vorasuk Shotelersuk, Wanna Chetruengchai, Pattara Wiromrat, Chupong Ittiwut, Adjima Assawapitaksakul, Mongkol Chanvanichtrakool, Duangrurdee Wattanasirichaigoon, Prasit Phowthongkum, Chulaluck Kuptanon, Wuttichart Kamolvisit, Ponghatai Boonsimma, Chureerat Phokaew, Chutima Phuaksaman
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Medicine, business, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca44c37112de3b765e7e9afbe8b9e2f3Test
https://doi.org/10.1111/cge.13963/v2/response1Test -
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المؤلفون: Wuttichart Kamolvisit, Prasit Phowthongkum, Ponghatai Boonsimma, Chulaluck Kuptanon, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Mongkol Chanvanichtrakool, Chutima Phuaksaman, Pattara Wiromrat, Chalurmpon Srichomthong, Chupong Ittiwut, Chureerat Phokaew, Rungnapa Ittiwut, Adjima Assawapitaksakul, Wanna Chetruengchai, Aayalida Buasong, Kanya Suphapeetiporn, Vorasuk Shotelersuk