يعرض 1 - 10 نتائج من 26 نتيجة بحث عن '"Karamzade, Arezou"', وقت الاستعلام: 1.04s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A rare immunological disease, caspase 8 deficiency: case report and literature review

    المؤلفون: Bazgir, Narges, Tahvildari, Azin, Chavoshzade, Zahra, Jamee, Mahnaz, Golchehre, Zahra, Karimi, Abdollah, Dara, Naghi, Fallahi, Mazdak, Keramatipour, Mohammad, Karamzade, Arezou, Sharafian, Samin

    المصدر: Allergy, Asthma & Clinical Immunology ; volume 19, issue 1 ; ISSN 1710-1492

    مصطلحات موضوعية: General Medicine

    الإتاحة: https://doi.org/10.1186/s13223-023-00778-3Test

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  2. 2
    دورية أكاديمية
    A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.

    المؤلفون: Nourmohammadi, Parisa, Asadollahi, Mostafa, Karamzade, Arezou, Eshaghkhani, Yeganeh, Babaei, Meisam, Golchehre, Zahra, Taheri, Seyedeh Roksana, Hasani, Sepideh, Taghizadeh, Mahdieh, Keramatipour, Mohammad

    المصدر: Journal of Genetics; Dec2023, Vol. 102 Issue 2, p1-8, 8p

    النص الكامل

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  3. 3
    دورية أكاديمية
    X-linked SCID with a rare mutation

    المؤلفون: Mahdavi, Fatemeh Sadat, Keramatipour, Mohammad, Ansari, Sarina, Sharafian, Samin, Karamzade, Arezou, Tavakol, Marzieh

    المصدر: Allergy, Asthma & Clinical Immunology ; volume 17, issue 1 ; ISSN 1710-1492

    مصطلحات موضوعية: General Medicine

    الإتاحة: https://doi.org/10.1186/s13223-021-00605-7Test

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  4. 4
    دورية أكاديمية
    Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

    المؤلفون: Latour, Brooke L, Van De Weghe, Julie C, Rusterholz, Tamara D S, Letteboer, Stef J F, Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E, van Reeuwijk, Jeroen, van Beersum, Sylvia E C, Miller, Caitlin V, Dempsey, Jennifer C, Morsy, Heba, Bamshad, Michael J, Nickerson, Deborah A, Neuhauss, Stephan C F, Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A, Alkuraya, Fowzan S, Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan

    المصدر: Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.

    مصطلحات موضوعية: Institute of Medical Genetics, Institute of Molecular Cancer Research, Institute of Molecular Life Sciences, 570 Life sciences, biology, General Medicine

    وصف الملف: application/pdf

    العلاقة: https://www.zora.uzh.ch/id/eprint/255203/1/JCI131656.v4.pdfTest; info:pmid/32453716; urn:issn:0021-9738

    الإتاحة: https://doi.org/10.5167/uzh-255203Test
    https://doi.org/10.1172/jci131656Test
    https://www.zora.uzh.ch/id/eprint/255203Test/
    https://www.zora.uzh.ch/id/eprint/255203/1/JCI131656.v4.pdfTest

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  5. 5
    دورية أكاديمية
    Succinate Dehydrogenase Deficiency, a Treatable Neurometabolic Disorder

    المؤلفون: Karimzadeh, Parvaneh, Keramati Pour, Mohammad, Karamzade, Arezou, Pourbakhtyaran, Elham

    المصدر: Iranian Journal of Child Neurology; Vol. 14 No. 4 (2020): autumn; 111-116 ; 2008-0700 ; 1735-4668

    مصطلحات موضوعية: Succinate dehydrogenase deficiency, Mitochondrial disorders, developmental regression

    وصف الملف: application/pdf

    العلاقة: https://journals.sbmu.ac.ir/ijcn/article/view/28633/25958Test; https://journals.sbmu.ac.ir/ijcn/article/view/28633Test

    الإتاحة: https://doi.org/10.22037/ijcn.v14i4.28633Test
    https://journals.sbmu.ac.ir/ijcn/article/view/28633Test

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  6. 6
    دورية أكاديمية
    Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19

    المؤلفون: Rahmani, Nasim, Talebi, Saeed, Hooman, Nakysa, Karamzade, Arezou

    المصدر: Journal of Pediatric Genetics ; volume 10, issue 03, page 230-235 ; ISSN 2146-4596 2146-460X

    الإتاحة: https://doi.org/10.1055/s-0041-1733852Test

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  7. 7
    دورية أكاديمية
    Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum

    المؤلفون: Karamzade, Arezou, Babaei, Meisam, Saberi, Mohammad, Golchin, Neda, Khalil Nejad Sani Banaei, Aysun, Eshaghkhani, Yeganeh, Golchehre, Zahra, Keramatipour, Mohammad

    المصدر: Molecular Biology Reports ; volume 48, issue 6, page 5339-5345 ; ISSN 0301-4851 1573-4978

    مصطلحات موضوعية: Genetics, Molecular Biology, General Medicine

    الإتاحة: https://doi.org/10.1007/s11033-021-06508-5Test

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  8. 8
    CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum

    المؤلفون: Saberi, Mohammad, Golchehre, Zahra, Karamzade, Arezou, Entezam, Mona, Eshaghkhani, Yeganeh, Alavinejad, Elaheh, Khojasteh Jafari, Hassan, Keramatipour, Mohammad

    المصدر: Iranian Biomedical Journal

    مصطلحات موضوعية: Male, Base Sequence, Leber Congenital Amaurosis, Whole exome sequencing, Membrane Proteins, Case Report, Nerve Tissue Proteins, Retinal dystrophies, Pedigree, Protein Domains, CRB1, Mutation, Humans, Female, Genetic Predisposition to Disease, Eye Proteins

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::bc0bd41e921999fd7a9e4bdf00991871Test
    http://europepmc.org/articles/PMC6661128Test


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  9. 9
    دورية أكاديمية
    Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.

    المؤلفون: AKBAROGHLI, Susan, KOOSHAVAR, Daniz, GOLCHEHRE, Zahra, KARAMZADE, Arezou, SABERI, Mohammad, ALAEI, Mohammad Reza, SADEGH, Masoud ABBASI, ASADOLLAHI, Mostafa, KERAMATIPOUR, Mohammad

    المصدر: Iranian Journal of Child Neurology; Winter2022, Vol. 16 Issue 1, p123-133, 11p

    مصطلحات موضوعية: SEQUENCE analysis, GENETIC mutation, LAURENCE-Moon-Biedl syndrome, GENETIC disorders, CONSANGUINITY, PHENOTYPES

    مصطلحات جغرافية: IRAN

    النص الكامل

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  10. 10
    دورية أكاديمية
    Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy.

    المؤلفون: Eshaghkhani, Yeganeh, Mohamadifar, Arezoo, Asadollahi, Mostafa, Taghizadeh, Mahdieh, Karamzade, Arezou, Saberi, Mohammad, Nourmohammadi, Parisa, Golchehre, Zahra, Amin, Ahmad, Keramatipou, Mohammad

    المصدر: Reports of Biochemistry & Molecular Biology; Jul2021, Vol. 10 Issue 2, p280-287, 8p

    مصطلحات موضوعية: DILATED cardiomyopathy, HEART failure, GENETIC variation, NUCLEAR proteins, IRANIANS, NUCLEAR membranes


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