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1دورية أكاديمية
المؤلفون: Marjan Shakiba, Mehrdad Yasaei, Hedyeh Saneifard, Asieh Mosallanejad, Mohammad Reza Alaei, Farzad Kobarfard, Marjan Esfahanizadeh, Narges Anousheh
المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101103- (2024)
مصطلحات موضوعية: Screening, Inherited metabolic disease, Genetics, IMD, Neonates, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000569Test; https://doaj.org/toc/2214-4269Test
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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