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1دورية أكاديمية
المؤلفون: Mohammad Reza Alaei, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, Mohammad Keramatipour
المصدر: Iranian Biomedical Journal, Vol 24, Iss 3, Pp 201-205 (2020)
مصطلحات موضوعية: genes, iran, mucopolysaccharidoses, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Masoumeh RAZIPOUR, Daniz KOOSHAVAR, Elaheh ALAVINEJAD, Seyede Zahra SAJEDI, Neda MOHAJER, Aria SETOODEH, Saeed TALEBI, Mohammad KERAMATIPOUR
المصدر: Iranian Journal of Public Health, Vol 46, Iss 4 (2017)
مصطلحات موضوعية: Phenylketonurias, Phenylalanine hydroxylase, Mutation analysis, Iran, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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3
المؤلفون: Mohammad Ali Sahraian, Saeed Talebi, Zahra Salehi, Mohammad Keramatipour, Maryam Izad, Seyed Shahriar Arab, Abdorreza Naser Moghadasi
المصدر: Genomics. 113:2645-2655
مصطلحات موضوعية: 0106 biological sciences, Multiple Sclerosis, Disease, Iran, Biology, 01 natural sciences, Genome, Pathogenesis, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, Exome, Exome sequencing, DNA Polymerase III, 030304 developmental biology, 0303 health sciences, Multiple sclerosis, Heterozygote advantage, medicine.disease, Pedigree, Consanguineous Marriage, 010606 plant biology & botany
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3c1d10e7f0c6bda5b70de8d88ee8e7Test
https://doi.org/10.1016/j.ygeno.2021.06.008Test -
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المؤلفون: Saeed Talebi, Zahra Noroozi, Maryam Eghbali, Ali Rabbani, Mehri Najafi, Fatemeh Yazarlou, Mohammad Hossein Modarressi, Marjan Shakiba, Maryam Abiri, Hosein Alimadadi, Parastoo Rostami
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)مصطلحات موضوعية: G6PC, Genotype-phenotype correlation, Monosaccharide Transport Proteins, lcsh:Medicine, Context (language use), Biology, Glycogen Storage Disease Type I, Iran, Antiporters, Frameshift mutation, Genotype, medicine, Missense mutation, Glycogen storage disease, Humans, Pharmacology (medical), Gene, Genetics (clinical), Genetic Association Studies, Genetics, Research, lcsh:R, General Medicine, medicine.disease, Autozygosity mapping, Phenotype, Mutation, Microsatellite, Novel variants, GSD1b
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f7e4bddde56a9a84dffe43945d8f3cTest
http://europepmc.org/articles/PMC6995048Test -
5Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes
المؤلفون: Mohammad Keramatipour, Saeed Talebi, Seyede Zahra Sajedi, Golnaz-Ensieh Kazemi-sefat, Seyyed Mojtaba Mohaddes Ardebili, Masoumeh Razipour, Aria Setoodeh, Neda Mohajer, Jalal Gharesouran, Mona Entezam, Elaheh Alavinejad
المصدر: Metabolic Brain Disease. 32:1685-1691
مصطلحات موضوعية: 0301 basic medicine, Genotype, Phenylalanine hydroxylase, Mutant, Locus (genetics), Minisatellite Repeats, Iran, Gene mutation, Polymerase Chain Reaction, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, Gene Frequency, Phenylketonurias, Prevalence, Humans, Allele, Gene, Genetics, biology, Phenylalanine Hydroxylase, Molecular biology, Introns, 030104 developmental biology, Haplotypes, Mutation, biology.protein, Female, Allelic heterogeneity, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b402763adaaca7fb7a2b6220a12bb1bTest
https://doi.org/10.1007/s11011-017-0048-7Test -
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المؤلفون: Maryam Abiri, Hassan Vahidnezhad, Tina Shirzad, Shadab Salehpour, Saeed Talebi, Leila Youssefian, Jouni Uitto, Sirous Zeinali
المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 29(10)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, beta-Hexosaminidase beta Chain, Consanguinity, Sandhoff disease, Iran, medicine.disease_cause, Compound heterozygosity, Polymerase Chain Reaction, 03 medical and health sciences, Endocrinology, Maple Syrup Urine Disease, Phenylketonurias, Medicine, Humans, Amino Acid Sequence, Genetic Testing, Genetic testing, Mutation, medicine.diagnostic_test, Sequence Homology, Amino Acid, business.industry, Maple syrup urine disease, Infant, Newborn, nutritional and metabolic diseases, Infant, Sandhoff Disease, medicine.disease, HEXB, Pedigree, 030104 developmental biology, Biochemistry, Pediatrics, Perinatology and Child Health, Female, business, Biomarkers, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016c843a0b097086b962e8227ecef41dTest
https://pubmed.ncbi.nlm.nih.gov/27682710Test -
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المؤلفون: Habib Rostami, Mitra Sharbatkhori, Majid Fasihi Harandi, Saeed Talebi, Zahra Babaei, Naser Ziaali, Sima Rostami
المصدر: Parasitology research. 112(10)
مصطلحات موضوعية: medicine.medical_specialty, Veterinary medicine, Camelus, Genotype, Cattle Diseases, Sheep Diseases, Iran, High Resolution Melt, law.invention, Sensu, law, Echinococcosis, parasitic diseases, Epidemiology, medicine, Animals, Echinococcus granulosus, Genotyping, Polymerase chain reaction, Sheep, General Veterinary, biology, Cystic echinococcosis, General Medicine, biology.organism_classification, Infectious Diseases, Insect Science, Parasitology, Cattle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43cbb4d45a84c828824e0c77453ca18Test
https://pubmed.ncbi.nlm.nih.gov/23832641Test -
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المؤلفون: Razipour, M., Kooshavar, D., Alavinejad, E., Sajedi, S. Z., Mohajer, N., Setoodeh, A., Saeed Talebi, Keramatipour, M.
المصدر: Scopus-Elsevier
Iranian Journal of Public Health
Iranian Journal of Public Health, Vol 46, Iss 4 (2017)مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Phenylalanine hydroxylase, Mutation analysis, lcsh:Public aspects of medicine, Phenylketonurias, nutritional and metabolic diseases, lcsh:RA1-1270, Case Report, Iran, humanities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8a1cc54021395b974df2f03912386d61Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-85018254734&partnerID=MN8TOARSTest