תוצאות חיפוש - Ranad Shaheen

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  1. 1
    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 מאת Ranad Shaheen, Lu Han, Eissa Faqeih, Nour Ewida, Eman Alobeid, Eric M. Phizicky, Fowzan S. Alkuraya

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  2. 2
    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

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

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    Identification and Partial Characterization of the Nonribosomal Peptide Synthetase Gene Responsible for Cereulide Production in Emetic <i>Bacillus cereus</i>

    Identification and Partial Characterization of the Nonribosomal Peptide Synthetase Gene Responsible for Cereulide Production in Emetic <i>Bacillus cereus</i> מאת Monika Ehling‐Schulz, Nataša Vukov, Anja Schulz, Ranad Shaheen, Maria A. Andersson, Erwin Märtlbauer, Siegfried Scherer

    יצא לאור 2005
    קבל טקסט מלא
    Artigo
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  4. 4
    A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

    A TCTN2 mutation defines a novel Meckel Gruber syndrome locus מאת Ranad Shaheen, Eissa Faqeih, Mohammed Zain Seidahmed, Asma Sunker, Faten Ezzat Alali, AlQahtani Khadijah, Fowzan S. Alkuraya

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
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  5. 5
    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

    Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome מאת Hanan E. Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Alshidi, Rana Alamro, Salma Al Harassi, Fowzan S. Alkuraya

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

    Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome מאת Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al‐Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya

    יצא לאור 2011
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  7. 7
    Emetic toxin-producing strains of Bacillus cereus show distinct characteristics within the Bacillus cereus group

    Emetic toxin-producing strains of Bacillus cereus show distinct characteristics within the Bacillus cereus group מאת Frédéric Carlin, Michael Fricker, Annemarie Pielaat, S. H. Heisterkamp, Ranad Shaheen, Mirja Salkinoja‐Salonen, Bo Svensson, C. Nguyen‐The, Monika Ehling‐Schulz

    יצא לאור 2006
    קבל טקסט מלא
    Artigo
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  8. 8
    Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator

    Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator מאת Berati Cerikan, Ranad Shaheen, Georgina P. Coló, Christine Gläßer, Shoji Hata, Klaus‐Peter Knobeloch, Fowzan S. Alkuraya, Reinhard Fässler, Elmar Schiebel

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  9. 9
    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

    FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome מאת Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, L.I. Al-Gazali, Fowzan S. Alkuraya

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  10. 10
    Genomic analysis of primordial dwarfism reveals novel disease genes

    Genomic analysis of primordial dwarfism reveals novel disease genes מאת Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada M. H. Abdel‐Salam, Zuhair N. Al‐Hassnan, Tarfa Alshidi, Rana Alomar, Sameera Sogaty, Fowzan S. Alkuraya

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  11. 11
    FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy

    FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy מאת Nadya Al‐Yacoub, Ranad Shaheen, Salma Awad, Muhammad Kunhi, Nduna Dzimiri, Henry C. Nguyen, Yong Xiong, Jehad Al‐Buraiki, Waleed AlHabeeb, Fowzan S. Alkuraya, Coralie Poizat

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  12. 12
    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden מאת Mohamed Abouelhoda, Turki M. Sobahy, Mohamed El-Kalioby, Nisha Patel, Hanan E. Shamseldin, Dorota Monies, Nada Al Tassan, Khushnooda Ramzan, Faiqa Imtiaz, Ranad Shaheen, Fowzan S. Alkuraya

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  13. 13
    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly מאת Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M. H. Abdel‐Salam, Inas S. M. Sayed, Anas M. Alazami, Tarfa Al‐Sheddi, Eman Alobeid, Eric M. Phizicky, Fowzan S. Alkuraya

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
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  14. 14
    Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

    Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism מאת Ranad Shaheen, Ghada M. H. Abdel‐Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel‐Hamid, Hanan H. Afifi, Samira Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  15. 15
    A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

    A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies מאת Ranad Shaheen, Miriam Schmidts, Eissa Faqeih, Amal Hashem, Ekkehart Lausch, Isabel Holder, Andrea Superti‐Furga, Hannah M. Mitchison, Agaadir Almoisheer, Rana Alamro, Tarfa Alshiddi, Fatma Alzahrani, Philip L. Beales, Fowzan S. Alkuraya

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
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  16. 16
    Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

    Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH מאת Ranad Shaheen, Zuhair Rahbeeni, Amal Alhashem, Eissa Faqeih, Qi Zhao, Yong Xiong, Agaadir Almoisheer, Sarah M. Al-Qattan, Halima A. Almadani, Noufa Alonazi, Badi Shoaib Albaqawi, Mohammad A. M. Saleh, Fowzan S. Alkuraya

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  17. 17
    Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

    Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes מאת Ranad Shaheen, Eissa Faqeih, Muneera J. Alshammari, Abdulrahman Swaid, Lihadh Al‐Gazali, Elham Al Mardawi, Shinu Ansari, Sameera Sogaty, Mohammed Zain Seidahmed, Muhammed Al-Motairi, Chantal Farra, Wesam Kurdi, Shatha Alrasheed, Fowzan S. Alkuraya

    יצא לאור 2012
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
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  18. 18
    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism מאת Ranad Shaheen, Eissa Faqeih, Hanan E. Shamseldin, Ramil R. Noche, Asma Sunker, Muneera J. Alshammari, Tarfa Al‐Sheddi, Nouran Adly, Mohammed S. Al-Dosari, Sean G. Megason, Muneera Al-Husain, Futwan Al‐Mohanna, Fowzan S. Alkuraya

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
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  19. 19
    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome מאת Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil, Eissa Faqeih, Shinu Ansari, Kim Horton, Adel M. Ashour, Maha S. Zaki, Fatema Alzahrani, Anna M. Cueto‐González, Ghada M. H. Abdel‐Salam, Samia A. Temtamy, Fowzan S. Alkuraya

    יצא לאור 2013
    קבל טקסט מלא
    Artigo
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  20. 20
    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation מאת Dorota Monies, Sateesh Maddirevula, Wesam Kurdi, Mohammed H. Alanazy, Hisham Alkhalidi, Mohammed Al‐Owain, Raashda A. Sulaiman, Eissa Faqeih, Ewa Goljan, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Ranad Shaheen, Stefan T. Arold, Fowzan S. Alkuraya

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Errata/Corrigenda
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