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1دورية أكاديمية
المؤلفون: Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Cornelia de Lange Syndrome (CdLS), Whole exome sequencing, Novel variant, NIPBL gene, SMC1A gene, Mosaicism, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Maryam Eghbali, Kiyana Sadat Fatemi, Shadab Salehpour, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee, Mohammad Hossein Modarressi
المصدر: Frontiers in Genetics, Vol 11 (2021)
مصطلحات موضوعية: glycogen storage diseases, whole-exome sequencing, novel causative variants, secondary/incidental findings, pharmacogenetic variants, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2020.601566/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: shahryar Azari, Shadab Salehpour
المصدر: International Journal of Pediatrics, Vol 10, Iss 1, Pp 15331-15339 (2022)
مصطلحات موضوعية: type 1 diabetes (t1dm), glycemic control, glycosylated hemoglobina (hba1c), self-monitoring of blood glucose (smbg), continuous glucose monitoring (cgm), Pediatrics, RJ1-570
العلاقة: https://ijp.mums.ac.ir/article_19377_669260d712bf43c29050fa0d95c8225c.pdfTest; https://doaj.org/toc/2345-5047Test; https://doaj.org/toc/2345-5055Test; https://doaj.org/article/37784d2d9f15439ba805c1811cd3eed9Test
الإتاحة: https://doi.org/10.22038/ijp.2021.61288.4720Test
https://doaj.org/article/37784d2d9f15439ba805c1811cd3eed9Test -
5
المؤلفون: Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Lawrence C. Layman, Hyung-Goo Kim, Mohammad Miryounesi
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5c7057bedfe4199b038603c56cbf3952Test
https://doi.org/10.21203/rs.3.rs-1411351/v1Test -
6
المؤلفون: Saeed R. Ghaffari, Maryam Rafati, Mahdi Shadnoush, Shokooh Pourbabaee, Mohammad Aghighi, Siamak Mirab Samiee, Jamshid Kermanchi, Mohammad R. Alaei, Shadab Salehpour, Davoud Amirkashani, Aria Setoodeh, Peymaneh Sarkhail, Reza Shervin Badv, Majid Aminzadeh, Siamak Shiva, Peyman Eshraghi, Hossein Moravej, Mahin Hashemipour, Noushin Rostampour, َAmir Ali Hamidieh, Bibi Shahin Shamsian, Sedigheh Shams, Daniel Zamanfar, Ayoub Ebrahimi, Ali Otadi, Seyedeh Zahra Tara, Zeinab Barati, Laya Fakhri, Azadeh Hoseini, Hosna Amiri, Somayeh Ramandi, Niusha Mostofinezhad, Zahra Pahlevani Kani, Elham Mohammadyari, Mahsa Khosravi, Masoome Saadati, Fatemeh Hoseininasab, Hamid Reza Khorram Khorshid, Younes Modaberisaber
المصدر: Human mutationREFERENCES. 43(4)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mucopolysaccharidosis VI, DNA Copy Number Variations, Mucopolysaccharidosis I, Genetics, nutritional and metabolic diseases, Humans, Iran, Mucopolysaccharidoses, skin and connective tissue diseases, Genetics (clinical), Chondroitinsulfatases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0435c10f3a5e98cc74a094eba486a8f6Test
https://pubmed.ncbi.nlm.nih.gov/35005816Test -
7دورية أكاديمية
المصدر: International Journal of Pediatrics, Vol 4, Iss 2, Pp 1315-1318 (2016)
مصطلحات موضوعية: CDKL5, epilepsy, Mutation, Pediatrics, RJ1-570
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8
المؤلفون: Soraya Bahari, Masoumeh Rostami, Shadab Salehpour, Seyed Hasan Tonekaboni, Soudeh Ghafouri-Fard, Mohammad Miryounesi, Vahid Reza Yassaee, Nasrin Alipour
المصدر: Journal of Molecular Neuroscience. 70:21-25
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Adolescent, Developmental Disabilities, Genetic counseling, Vesicular Transport Proteins, Prenatal diagnosis, medicine.disease_cause, Fingers, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Intellectual Disability, Myopia, Humans, Medicine, Exome, Obesity, Exome sequencing, Genetics, Cohen syndrome, Mutation, business.industry, Retinal Degeneration, Infant, General Medicine, medicine.disease, humanities, Hypotonia, Pedigree, VPS13B, Phenotype, 030104 developmental biology, Microcephaly, Muscle Hypotonia, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8ce5075da18f35fd6c572f227e1e80bTest
https://doi.org/10.1007/s12031-019-01394-wTest -
9
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 -
10
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