Search Results - Alkuraya, Fowzan S.

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  1. 1
    Vogel and Motulsky's Human Genetics, 4(th) Edition

    Vogel and Motulsky's Human Genetics, 4(th) Edition by Alkuraya, Fowzan S.

    Published 2011
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  2. 2
    Saudi genetic ophthalmology research: The local and global impact

    Saudi genetic ophthalmology research: The local and global impact by Alkuraya, Fowzan S.

    Published 2010
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  3. 3
    Genetics and genomic medicine in Saudi Arabia

    Genetics and genomic medicine in Saudi Arabia by Alkuraya, Fowzan S

    Published 2014
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  4. 4
    Natural human knockouts and the era of genotype to phenotype

    Natural human knockouts and the era of genotype to phenotype by Alkuraya, Fowzan S

    Published 2015
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  5. 5
    2020 Curt Stern Award address: a more perfect clinical genome—how consanguineous populations contribute to the medical annotation of the human genome

    2020 Curt Stern Award address: a more perfect clinical genome—how consanguineous populations contribute to the medical annotation of the human genome by Alkuraya, Fowzan S.

    Published 2021
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  6. 6
    Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

    Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing by Shamseldin, Hanan E., Swaid, Abdulrahman, Alkuraya, Fowzan S.

    Published 2013
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  7. 7
    Genetic and genomic analysis of classic aniridia in Saudi Arabia

    Genetic and genomic analysis of classic aniridia in Saudi Arabia by Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

    Published 2011
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  8. 8
    Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

    Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations by Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

    Published 2011
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  9. 9
    Indigenous Arabs have an intermediate frequency of a Neanderthal‐derived COVID‐19 risk haplotype compared with other world populations

    Indigenous Arabs have an intermediate frequency of a Neanderthal‐derived COVID‐19 risk haplotype compared with other world populations by Mineta, Katsuhiko, Goto, Kosuke, Gojobori, Takashi, Alkuraya, Fowzan S.

    Published 2020
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  10. 10
    Population structure of indigenous inhabitants of Arabia

    Population structure of indigenous inhabitants of Arabia by Mineta, Katsuhiko, Goto, Kosuke, Gojobori, Takashi, Alkuraya, Fowzan S.

    Published 2021
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  11. 11
    Revisiting the morbid genome of Mendelian disorders

    Revisiting the morbid genome of Mendelian disorders by Abouelhoda, Mohamed, Faquih, Tariq, El-Kalioby, Mohamed, Alkuraya, Fowzan S.

    Published 2016
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  12. 12
    A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

    A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18) by Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.

    Published 2011
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  13. 13
    Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

    Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? by Sewairi, Wafaa, Assiri, Abdulrahman, Patel, Nisha, Alhashem, Amal, Alkuraya, Fowzan S

    Published 2016
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  14. 14
    Response to Yehia et al.

    Response to Yehia et al. by Siraj, Abdul K., Masoodi, Tariq, Alkuraya, Fowzan S., Al-Kuraya, Khawla S.

    Published 2017
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  15. 15
    A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis

    A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis by Alanzi, Talal, Alhashem, Amal, Dagriri, Khalid, Alzahrani, Fatema, Alkuraya, Fowzan S.

    Published 2019
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  16. 16
    FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

    FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? by Shaheen, Ranad, Al-Owain, Mohammed, Sakati, Nadia, Alzayed, Zayed S., Alkuraya, Fowzan S.

    Published 2010
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  17. 17
    FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

    FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? by Shaheen, Ranad, Al-Owain, Mohammed, Sakati, Nadia, Alzayed, Zayed S., Alkuraya, Fowzan S.

    Published 2010
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  18. 18
    Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

    Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation by Alsalem, Ahmed B., Halees, Anason S., Anazi, Shamsa, Alshamekh, Shomoukh, Alkuraya, Fowzan S.

    Published 2013
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  19. 19
    DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

    DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification by Lentini, Jenna M., Alsaif, Hessa S., Faqeih, Eissa, Alkuraya, Fowzan S., Fu, Dragony

    Published 2020
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  20. 20
    Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

    Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita by Altawil, Lama, Alshihry, Hind, Ahmed, Hala, Shamseldin, Hanan E., Alkuraya, Fowzan

    Published 2020
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