Hasil Pencarian - Praseetha Kizhakkedath

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  1. 1
    Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome

    Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome oleh Praseetha Kizhakkedath, Anne John, Lihadh Al-Gazali, Bassam R. Ali

    Diterbitkan 2018-01-01
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  2. 2
    Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia

    Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia oleh Praseetha Kizhakkedath, Anne John, Buthaina K. Al‐Sawafi, Lihadh Al‐Gazali, Bassam R. Ali

    Diterbitkan 2019-11-01
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  3. 3
    Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways

    Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways oleh Nesrin Gariballa, Praseetha Kizhakkedath, Nadia Akawi, Anne John, Bassam R. Ali, Bassam R. Ali

    Diterbitkan 2022-02-01
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  4. 4
    Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia

    Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia oleh Deepu Oommen, Praseetha Kizhakkedath, Aseel A. Jawabri, Divya Saro Varghese, Bassam R. Ali, Bassam R. Ali, Bassam R. Ali

    Diterbitkan 2020-09-01
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  5. 5
    AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes

    AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes oleh Rahaf M. Ahmad, Bassam R. Ali, Fatma Al-Jasmi, Noura Al Dhaheri, Saeed Al Turki, Praseetha Kizhakkedath, Mohd Saberi Mohamad

    Diterbitkan 2024-09-01
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  6. 6
    A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

    A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement oleh Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali, Lihadh Al-Gazali

    Diterbitkan 2016-10-01
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  7. 7
    Spectrum of genetic variants in bilateral sensorineural hearing loss

    Spectrum of genetic variants in bilateral sensorineural hearing loss oleh Amanat Ali, Mohammed Tabouni, Praseetha Kizhakkedath, Ibrahim Baydoun, Mushal Allam, Anne John, Faiza Busafared, Ayesha Alnuaimi, Fatma Al-Jasmi, Fatma Al-Jasmi, Hiba Alblooshi

    Diterbitkan 2024-02-01
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  8. 8
    Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

    Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum oleh Praseetha Kizhakkedath, Watfa AlDhaheri, Ibrahim Baydoun, Mohammed Tabouni, Anne John, Taleb M. Almansoori, Saeed Al-Turki, Fatma Al-Jasmi, Fatma Al-Jasmi, Hiba Alblooshi

    Diterbitkan 2023-07-01
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  9. 9
    Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis

    Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational a... oleh Feda E. Mohamed, Mohammad A. Ghattas, Mohammad A. Ghattas, Taleb M. Almansoori, Mohammed Tabouni, Ibrahim Baydoun, Praseetha Kizhakkedath, Anne John, Hiba Alblooshi, Qudsia Shaukat, Fatma Al-Jasmi, Fatma Al-Jasmi

    Diterbitkan 2023-07-01
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  10. 10
    Utility of clinical exome sequencing in a complex Emirati pediatric cohort

    Utility of clinical exome sequencing in a complex Emirati pediatric cohort oleh Nour Abu Mahfouz, Praseetha Kizhakkedath, Alia Ibrahim, Maha El Naofal, Sathishkumar Ramaswamy, Divinlal Harilal, Yasmeen Qutub, Mohammed Uddin, Alan Taylor, Zeinab Alloub, Ammar AlBanna, Walid Abuhammour, Basil Fathalla, Ahmad Abou Tayoun

    Diterbitkan 2020-01-01
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  11. 11
    Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records

    Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records oleh Nadia Akawi, Nadia Akawi, Ghadeera Al Mansoori, Anwar Al Zaabi, Andrea Badics, Noura Al Dhaheri, Noura Al Dhaheri, Aisha Al Shamsi, Amal Al Tenaiji, Amal Al Tenaiji, Bashar Alzohily, Fatmah S. A. Almesmari, Hamad Al Hammadi, Nahid Al Dhahouri, Manal Irshaid, Praseetha Kizhakkedath, Fatema Al Shibli, Mohammed Tabouni, Mushal Allam, Mushal Allam, Ibrahim Baydoun, Hiba Alblooshi, Bassam R. Ali, Roger S. Foo, Roger S. Foo, Fatma Al Jasmi

    Diterbitkan 2024-10-01
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