Hasil Pencarian - Samira Kalayinia

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  1. 1
    A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease

    A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease oleh Samira Kalayinia, Serwa Ghasemi, Nejat Mahdieh

    Diterbitkan 2019-11-01
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  2. 2
    Is There Any Association Between the MEF2A Gene Changes and Coronary Artery Disease?

    Is There Any Association Between the MEF2A Gene Changes and Coronary Artery Disease? oleh Soodeh Omidi, Serwa Ghasemi, Samira Kalayinia

    Diterbitkan 2020-11-01
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  3. 3
    An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

    An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 oleh Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, Peymaneh Sarkhail, Nejat Mahdieh

    Diterbitkan 2021-01-01
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  4. 4
    A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing

    A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing oleh Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar, Samira Kalayinia

    Diterbitkan 2022-11-01
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  5. 5
    Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy

    Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy oleh Maryam Pourirahim, Golnaz Houshmand, Leyla Abdolkarimi, Majid Maleki, Samira Kalayinia

    Diterbitkan 2024-04-01
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  6. 6
    Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy

    Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy oleh Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar, Samira Kalayinia

    Diterbitkan 2023-12-01
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  7. 7
    A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

    A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1 oleh Samira Kalayinia, Mohammad Dalili, Maryam Pourirahim, Majid Maleki, Nejat Mahdieh

    Diterbitkan 2023-01-01
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  8. 8
    Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing

    Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing oleh Katayoun Heshmatzad, Niloofar Naderi, Tannaz Masoumi, Hamidreza Pouraliakbar, Samira Kalayinia

    Diterbitkan 2022-09-01
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  9. 9
    Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing

    Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing oleh Erfan Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia

    Diterbitkan 2024-05-01
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  10. 10
    Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death

    Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death oleh Amir Azimi, Maryam Pourirahim, Golnaz Houshmand, Sara Adimi, Majid Maleki, Samira Kalayinia

    Diterbitkan 2023-10-01
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  11. 11
    Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19

    Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19 oleh Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia

    Diterbitkan 2023-01-01
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  12. 12
    Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

    Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy oleh Samira Kalayinia, Mohammad Mahdavi, Golnaz Houshmand, Mahshid Hesami, Maryam Pourirahim, Majid Maleki

    Diterbitkan 2022-08-01
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  13. 13
    A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

    A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy oleh Niloofar Naderi, Neda Mohsen-Pour, Yalda Nilipour, Maryam Pourirahim, Majid Maleki, Samira Kalayinia

    Diterbitkan 2023-10-01
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  14. 14
    Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing

    Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing oleh Amir Farjam Fazelifar, Maryam Pourirahim, Tannaz Masoumi, Alireza Biglari, Majid Maleki, Samira Kalayinia

    Diterbitkan 2023-06-01
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  15. 15
    In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease

    In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease oleh Shiva Abbasi, Neda Mohsen-Pour, Niloofar Naderi, Shahin Rahimi, Majid Maleki, Samira Kalayinia

    Diterbitkan 2021-12-01
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  16. 16
    Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

    Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation oleh Mahshid Malakootian, Masoumeh Jalilian, Samira Kalayinia, Maryam Hosseini Moghadam, Mona Heidarali, Majid Haghjoo

    Diterbitkan 2022-02-01
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  17. 17
    A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects

    A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects oleh Avisa Tabib, Taravat Talebi, Serwa Ghasemi, Maryam Pourirahim, Niloofar Naderi, Majid Maleki, Samira Kalayinia

    Diterbitkan 2022-12-01
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  18. 18
    Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death

    Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death oleh Amir Azimi, Mahdieh Soveizi, Alireza Salmanipour, Mohammadhossein Mozafarybazargany, Amir Ghaffari Jolfayi, Majid Maleki, Samira Kalayinia

    Diterbitkan 2024-10-01
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  19. 19
    A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features

    A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features oleh Amir Ghaffari Jolfayi, Niloofar Naderi, Serwa Ghasemi, Alireza Salmanipour, Sara Adimi, Majid Maleki, Samira Kalayinia

    Diterbitkan 2024-01-01
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  20. 20
    Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

    Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family oleh Mahshid Malakootian, Mahrokh Bagheri Moghaddam, Samira Kalayinia, Melody Farrashi, Majid Maleki, Parham Sadeghipour, Ahmad Amin

    Diterbitkan 2022-05-01
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