Søgeresultater - Eissa Faqeih

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  1. 1
    Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

    Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation af Mahmoud Adel, A. H., Abdullah, A. Al Jabri, Eissa, Faqeih

    Udgivet 2013
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  2. 2
    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 af Jenna M. Lentini, Hessa S. Alsaif, Eissa Faqeih, Fowzan S. Alkuraya, Dragony Fu

    Udgivet 2020
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  3. 3
    Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

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

    Udgivet 2013
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  4. 4
    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 af Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya

    Udgivet 2015
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  5. 5
    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 af Ranad Shaheen, Lu Han, Eissa Faqeih, Nour Ewida, Eman Alobeid, Eric M. Phizicky, Fowzan S. Alkuraya

    Udgivet 2016
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  6. 6
    Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

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

    Udgivet 2016
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  7. 7
    Non-invasive prenatal testing: a revolutionary journey in prenatal testing

    Non-invasive prenatal testing: a revolutionary journey in prenatal testing af Malak Abedalthagafi, Shahad Bawazeer, Romy I. Fawaz, A. Merrihew Heritage, Nouf M. Alajaji, Eissa Faqeih

    Udgivet 2023
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    Revisão
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  8. 8
    A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

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

    Udgivet 2011
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  9. 9
    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 af Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al‐Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya

    Udgivet 2011
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  10. 10
    Genomic analysis of primordial dwarfism reveals novel disease genes

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

    Udgivet 2014
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  11. 11
    A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder

    A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder af Hanan E. Shamseldin, Ali Alasmari, Mohammed A. Salih, Manar Samman, Shahzad I. Mian, Tarfa Alshidi, Niema Ibrahim, Mais Hashem, Eissa Faqeih, Futwan Al‐Mohanna, Fowzan S. Alkuraya

    Udgivet 2017
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  12. 12
    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 af 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

    Udgivet 2014
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  13. 13
    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 af 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

    Udgivet 2014
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  14. 14
    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 af 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

    Udgivet 2012
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  15. 15
    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

    POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism af 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

    Udgivet 2012
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  16. 16
    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 af 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

    Udgivet 2013
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  17. 17
    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 af 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

    Udgivet 2017
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  18. 18
    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation af Bobby G. Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N. Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B. Lebrilla, Ali Alasmari, Sharon F. Suchy, Zöe Powis, Eissa Faqeih, Susan A. Berry, David F. Kronn, Hudson H. Freeze

    Udgivet 2018
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  19. 19
    Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

    Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia af Céline Huber, Eissa Faqeih, Deborah Bartholdi, Christine Bôle‐Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschké, J. Roume, Heloísa G. dos Santos, Stavit Shalev, Andrea Superti‐Furga, Anne‐Lise Delezoide, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

    Udgivet 2012
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  20. 20
    A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

    A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families af Mohamed H. Al‐Hamed, Essam Al‐Sabban, Hamad Al‐Mojalli, Naffaa Al-Harbi, Eissa Faqeih, Hammad Al Shaya, Khalid Alhasan, Safaa Al-Hissi, Mohamed Rajab, Noel Edwards, Abbas Al-Abbad, Ibrahim A. Al-Hassoun, John A. Sayer, Brian F. Meyer

    Udgivet 2013
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