Resultados da pesquisa - Fowzan S. Alkuraya

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  1. 1
    Homozygosity mapping: One more tool in the clinical geneticist's toolbox

    Homozygosity mapping: One more tool in the clinical geneticist's toolbox Por Fowzan S. Alkuraya

    Publicado em 2010
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  2. 2
    Genetics and genomic medicine in Saudi Arabia

    Genetics and genomic medicine in Saudi Arabia Por Fowzan S. Alkuraya

    Publicado em 2014
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  3. 3
    Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

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

    Publicado em 2012
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  4. 4
    Ciliary Genes<i>TBC1D32</i>/<i>C6orf170</i>and<i>SCLT1</i>are Mutated in Patients with OFD Type IX

    Ciliary Genes<i>TBC1D32</i>/<i>C6orf170</i>and<i>SCLT1</i>are Mutated in Patients with OFD Type IX Por Nouran Adly, Amal Alhashem, Amer Ammari, Fowzan S. Alkuraya

    Publicado em 2013
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  5. 5
    Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

    Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1 Por Hanan E. Shamseldin, Mohamed Ahmed Elfaki, Fowzan S. Alkuraya

    Publicado em 2012
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  6. 6
    Revisiting the morbid genome of Mendelian disorders

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

    Publicado em 2016
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  7. 7
    A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

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

    Publicado em 2011
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  8. 8
    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 Por Jenna M. Lentini, Hessa S. Alsaif, Eissa Faqeih, Fowzan S. Alkuraya, Dragony Fu

    Publicado em 2020
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  9. 9
    MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts

    MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts Por Abdulrahman Alsultan, Hanan E. Shamseldin, Mohamed Elfaki Osman, Mansour Aljabri, Fowzan S. Alkuraya

    Publicado em 2013
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  10. 10
    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 Por Ahmed B. Alsalem, Anason Halees, Shamsa Anazi, Shomoukh A. Alshamekh, Fowzan S. Alkuraya

    Publicado em 2013
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  11. 11
    GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

    GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder Por Hanan E. Shamseldin, Alexis H. Bennett, Majid Alfadhel, Vandana Gupta, Fowzan S. Alkuraya

    Publicado em 2016
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  12. 12
    Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

    Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification Por Dorota Monies, Cathrine Broberg Vågbø, Mohammad Al-Owain, Suzan Alhomaidi, Fowzan S. Alkuraya

    Publicado em 2019
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  13. 13
    Homozygous null mutation in ODZ3 causes microphthalmia in humans

    Homozygous null mutation in ODZ3 causes microphthalmia in humans Por Mohammed A. Aldahmesh, Jawahir Y. Mohammed, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Publicado em 2012
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  14. 14
    An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

    An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity Por Kejia Zhang, Jenna M. Lentini, Christopher T. Prevost, Mais Hashem, Fowzan S. Alkuraya, Dragony Fu

    Publicado em 2020
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  15. 15
    Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

    Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly Por Jawahir Y. Mohamed, Eissa Faqeih, Abdulmonem Alsiddiky, Muneera J. Alshammari, Niema Ibrahim, Fowzan S. Alkuraya

    Publicado em 2013
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  16. 16
    Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

    Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus Por Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Mohammed Hussien Alghamdi, Fowzan S. Alkuraya

    Publicado em 2012
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  17. 17
    Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

    Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy Por Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya

    Publicado em 2015
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  18. 18
    A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

    A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition Por Ranad Shaheen, Lu Han, Eissa Faqeih, Nour Ewida, Eman Alobeid, Eric M. Phizicky, Fowzan S. Alkuraya

    Publicado em 2016
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  19. 19
    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy Por Hanan E. Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen, Fowzan S. Alkuraya

    Publicado em 2016
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  20. 20
    Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids

    Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids Por Yuichi Yagita, Kyoko Shinohara, Yuichi Abe, Keiko Nakagawa, Mohammed Al‐Owain, Fowzan S. Alkuraya, Yukio Fujiki

    Publicado em 2016
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