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1دورية أكاديمية
المؤلفون: Javad Shahpouri, Saeideh Karami, Davood Mohammadi, Mohsen Mollamohammadi, Abolfazl Mohammadbeigi
المصدر: Majallah-i ̒Ilmī-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Simnān, Vol 22, Iss 2, Pp 317-324 (2020)
مصطلحات موضوعية: mental disorders, phenylketonurias, nutrition therapy, child, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Masoud Heidari, Morteza Soleyman-Nejad, Mohammad Hossein Taskhiri, Alireza Isazadeh, Manzar Bolhassan, Javad Shahpouri, Mansour Heidari, Nahid Sadighi
المصدر: Acta Medica Iranica, Vol 57, Iss 8 (2020)
مصطلحات موضوعية: Syntaxin binding protein 1 (STXBP1) gene, Mutation, Epileptic encephalopathy, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Ali Reza Mohamadi, Mansour Heidari, Morteza Soleyman-Nejad, Masoud Heidari, Alireza Isazadeh, Zahra Karimi, Javad Shahpouri, Masoumeh Ebrahimi, Manzar Bolhassani, Roghayyeh Ahangari, Hadi Karimi, Mohammad Hossein Taskhiri
المصدر: Current Genomics. 20:531-534
مصطلحات موضوعية: Proband, Genetics, 0303 health sciences, Mutation, Genetic counseling, Biology, medicine.disease, Preimplantation genetic diagnosis, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Ataxia-telangiectasia, medicine, Gene, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c5ff5c35525e211629800e1d6987ddb9
https://doi.org/10.2174/1389202920666191107153734 -
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المؤلفون: Alireza Isazadeh, Mansour Heidari, Nahid Sadighi, Morteza d Soleyman-Neja, Javad Shahpouri, Masoud Heidari, Mohammad Hossein Taskhiri, Manzar Bolhassani
المصدر: Acta Medica Iranica, Vol 57, Iss 8 (2020)
مصطلحات موضوعية: Proband, Genetics, lcsh:R5-920, STX1A, business.industry, Syntaxin binding protein 1 (STXBP1) gene, Epileptic encephalopathy, General Medicine, Syntaxin binding, chemistry.chemical_compound, Exon, chemistry, Mutation (genetic algorithm), Mutation, STXBP1, Medicine, Neurotransmitter, business, lcsh:Medicine (General), Gene
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5
المؤلفون: Masoud, Heidari, Morteza, Soleyman-Nejad, Mohammad H, Taskhiri, Javad, Shahpouri, Alireza, Isazadeh, Roghayyeh, Ahangari, Ali R, Mohamadi, Masoumeh, Ebrahimi, Hadi, Karimi, Manzar, Bolhassani, Zahra, Karimi, Mansour, Heidari
المصدر: Current Genomics
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, mutation detection, protein, probands, Article, frameshift mutations, Ataxia-telangiectasia, whole exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5aab7e3072d66537fd56eb943af6317c
https://pubmed.ncbi.nlm.nih.gov/32655291