Hasil Pencarian - Lamia Alsubaie

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  1. 1
    Clinical reassessment of post-laboratory variant call format (VCF) files

    Clinical reassessment of post-laboratory variant call format (VCF) files oleh Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares

    Diterbitkan 2018-06-01
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  2. 2
    Knowledge and attitude of physicians, cancer patients, and the public concerning cancer-related genetic tests in Saudi Arabia

    Knowledge and attitude of physicians, cancer patients, and the public concerning cancer-related genetic tests in Saudi Arabia oleh Lamia Alsubaie, Abdulrahman Alswaid, Omnia Abdulaty, Ahmed Alfares, Sara Gilvary

    Diterbitkan 2019-12-01
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  3. 3
    Genetic carrier screening for disorders included in newborn screening in the Saudi population

    Genetic carrier screening for disorders included in newborn screening in the Saudi population oleh Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

    Diterbitkan 2021-12-01
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  4. 4
    Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report

    Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report oleh Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi

    Diterbitkan 2020-06-01
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  5. 5
    Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer

    Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer oleh Omalkhair Abulkhair, Mohammed Al Balwi, Ola Makram, Lamia Alsubaie, Medhat Faris, Hussam Shehata, Ahmed Hashim, Banu Arun, Ahmed Saadeddin, Ezzeldin Ibrahim

    Diterbitkan 2018-09-01
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  6. 6
    Genetic impact of non-consanguineous marriages in Saudi Arabia.

    Genetic impact of non-consanguineous marriages in Saudi Arabia. oleh Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

    Diterbitkan 2022-12-01
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  7. 7
    Supplementary testing after negative or inconclusive exome sequencing results

    Supplementary testing after negative or inconclusive exome sequencing results oleh Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares

    Diterbitkan 2023-06-01
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  8. 8
    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly oleh William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle

    Diterbitkan 2021-02-01
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  9. 9
    What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

    What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations oleh Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel

    Diterbitkan 2020-07-01
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