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1دورية أكاديمية
المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
المصدر: Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Niemann-Pick C, Molecular Study, New Mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1601-5223Test
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المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
المصدر: Hereditas
Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)مصطلحات موضوعية: Molecular Study, New Mutation, Research, Computational Biology, Niemann-Pick Disease, Type C, General Medicine, Exons, QH426-470, Iran, Niemann-Pick C1 Protein, Niemann-Pick C, Mutation, Genetics, Humans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac315a745c484672117b387471950710Test
https://pubmed.ncbi.nlm.nih.gov/35086560Test -
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المؤلفون: Diba Akbarzadeh, Seyed Hassan Tonekaboni, Rezvan Abtahi, Reza Zolfaghari Emameh, Parvaneh Karimzadeh, Shadab Salehpour, Massoud Houshmand, Alireza Rezayi
المصدر: Journal of molecular neuroscience : MN. 72(3)
مصطلحات موضوعية: Genetics, Heterozygote, Tay-Sachs Disease, beta-Hexosaminidase alpha Chain, Genotype, beta-Hexosaminidase beta Chain, General Medicine, Disease, Exons, Gene mutation, Sandhoff disease, Biology, Iran, medicine.disease, HEXB, Cellular and Molecular Neuroscience, Sphingomyelin Phosphodiesterase, Sphingolipidoses, Mutation, medicine, Humans, Sphingolipidosis, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e9b1ec2f684fe31204771326b326ceTest
https://pubmed.ncbi.nlm.nih.gov/34554397Test -
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المؤلفون: Hossein Najmabadi, A. Eliot Shearer, Kimia Kahrizi, Zohreh Fattahi, Seyed Navid Almadani, Sanaz Arzhangi, Batool Azadeh, Richard J.H. Smith, Niloofar Bazazzadegan, Mojgan Babanejad, Fatemehsadat Esteghamat, Khadijeh Jalalvand, Nooshin Nikzat, Rezvan Abtahi
المصدر: American Journal of Medical Genetics Part A. :1857-1864
مصطلحات موضوعية: Male, MYO15A, Population, Nonsense mutation, Genes, Recessive, Locus (genetics), Deafness, Iran, Myosins, Gene mutation, Biology, Article, Connexins, Genetic linkage, otorhinolaryngologic diseases, Genetics, Humans, Missense mutation, Mutation frequency, education, Genetics (clinical), education.field_of_study, Chromosome Mapping, Molecular biology, Pedigree, Connexin 26, Mutation, Female, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e84d6481b8539325e1667c4bf9e0c2d8Test
https://doi.org/10.1002/ajmg.a.34411Test -
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المؤلفون: William J. Kimberling, Richard J.H. Smith, Patrick L. M. Huygen, Jennifer Webster, Nooshin Nikzat, Kimia Kahrizi, Rezvan Abtahi, Dietrich A. Stephan, Michael S. Hildebrand, Niloofar Bazazzadegan, Catherine J. Bromhead, A. Eliot Shearer, Melanie Bahlo, Hossein Khodaei, Mojgan Babanejad, Hossein Najmabadi
المصدر: Scopus-Elsevier
Annals of Otology, Rhinology and Laryngology, 119, 830-5
Annals of Otology, Rhinology and Laryngology, 119, 12, pp. 830-5مصطلحات موضوعية: Genotype, Genetics and epigenetic pathways of disease [NCMLS 6], Hearing loss, Population, Locus (genetics), Genome-wide association study, Consanguinity, Deafness, Iran, Biology, Polymorphism, Single Nucleotide, Article, medicine, otorhinolaryngologic diseases, Humans, Profound hearing impairment, Hearing Loss, education, Sequence Deletion, Genetics, education.field_of_study, Splice site mutation, Chromosome Mapping, Membrane Proteins, Sequence Analysis, DNA, General Medicine, Pedigree, Otorhinolaryngology, Computers, Handheld, Mutation, RNA Splice Sites, medicine.symptom, Functional Neurogenomics [DCN 2], Genome-Wide Association Study, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90b1fe32fe3199c6a8de631eceff1f2Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-78649936024&partnerID=MN8TOARSTest