Search Results - Mais Hashem

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  1. 1
    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 by Kejia Zhang, Jenna M. Lentini, Christopher T. Prevost, Mais Hashem, Fowzan S. Alkuraya, Dragony Fu

    Published 2020
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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 by Hanan E. Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen, Fowzan S. Alkuraya

    Published 2016
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  3. 3
    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 by Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al‐Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya

    Published 2011
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  4. 4
    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 by 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

    Published 2017
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  5. 5
    Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

    Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies by Gökhan Ünlü, Xinzi Qi, Eric R. Gamazon, D. Melville, Nisha Patel, Amy R. Rushing, Mais Hashem, Abdullah Alfaifi, Rui Chen, Bingshan Li, Nancy J. Cox, Fowzan S. Alkuraya, Ela W. Knapik

    Published 2020
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  6. 6
    IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

    IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome by Mohammed A. Aldahmesh, Yuanyuan Li, Amal Alhashem, Shams Anazi, H. Alkuraya, Mais Hashem, Ali Awaji, Samira Sogaty, Abdullah S. Al-Kharashi, S. Alzahrani, S. A. Al Hazzaa, Yong Xiong, Seong-Ho Kong, Zhaoxia Sun, Fowzan S. Alkuraya

    Published 2014
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  7. 7
    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families by Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed M Kurdi, Zainab Babay, Dalal Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

    Published 2015
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  8. 8
    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 by 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

    Published 2017
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  9. 9
    Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

    Mutations in LRPAP1 Are Associated with Severe Myopia in Humans by Mohammed A. Aldahmesh, Arif O. Khan, Hisham Alkuraya, Nouran Adly, Shamsa Anazi, Ahmed A. Al-Saleh, Jawahir Y. Mohamed, Hadia Hijazi, Sarita Prabakaran, Marlene Tacke, Abdullah Al-Khrashi, Mais Hashem, Thomas Reinheckel, Abdullah M. Assiri, Fowzan S. Alkuraya

    Published 2013
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  10. 10
    Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

    Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice by Ranad Shaheen, Shams Anazi, Tawfeg Ben‐Omran, Mohammed Zain Seidahmed, L. Brianna Caddle, Kristina Palmer, Rehab Ali, Tarfa Alshidi, Samya Hagos, Leslie O. Goodwin, Mais Hashem, Salma M. Wakil, Mohamed Abouelhoda, Dilek Çolak, Stephen A. Murray, Fowzan S. Alkuraya

    Published 2016
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  11. 11
    Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

    Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders by Huilun Wang, Liangguang Leo Lin, Zexin Jason Li, Xiaoqiong Wei, Omar Askander, Gerarda Cappuccio, Mais Hashem, Laurence Hubert, Arnold Münnich, Mashael Alqahtani, Qi Pang, Margit Burmeister, You Lu, Karine Poirier, Claude Besmond, Shengyi Sun, Nicola Brunetti‐Pierri, Fowzan S. Alkuraya, Ling Qi

    Published 2023
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  12. 12
    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract by Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O. Khan, Talal Algoufi, Mohammed Al‐Owain, Eissa Faqeih, Muneera J. Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A. Aldahmesh, Salil A. Lachke, Fowzan S. Alkuraya

    Published 2016
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  13. 13
    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes by Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al‐Owain, Jawahir Al-Zahrani, Lama AlAbdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-Zack, Malik Nassan, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah S. Al-Kharashi, Emad B. Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Published 2012
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  14. 14
    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

    Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development by Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, Saud Alsahli, Angela F. Brady, Anaïs Begemann, Tsunehiro Mizushima, Francisco J. Guzmán‐Vega, Miki Obata, Yoshinobu Ichimura, Hessa S. Alsaif, Shams Anazi, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Dorota Monies, Mohamed Abouelhoda, Brian F. Meyer, Majid Alfadhel, Wafa Eyaid, Markus Zweier, Katharina Steindl, Anita Rauch, Stefan T. Arold, C. Geoffrey Woods, Masaaki Komatsu, Fowzan S. Alkuraya

    Published 2018
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  15. 15
    In search of triallelism in Bardet–Biedl syndrome

    In search of triallelism in Bardet–Biedl syndrome by Leen Abu‐Safieh, Shamsa Al-Anazi, Lama AlAbdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair N. Al‐Hassnan, Basim Alkuraya, Jawahir Y. Mohamed, Ahmad Al-Salem, May Alrashed, Eissa Faqeih, Ameen Softah, Amal Alhashem, Sami Wali, Zuhair Rahbeeni, Moeen Al-Sayed, Arif O. Khan, Lihadh Al‐Gazali, Peter E.M. Taschner, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Published 2012
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  16. 16
    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics by Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa Al‐Sheddi, Eman Alobeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya

    Published 2020
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  17. 17
    Bi-allelic variants in<i>WDR47</i>lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans

    Bi-allelic variants in<i>WDR47</i>lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans by Efil Bayam, Peggy Tilly, Stephan C. Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Sateesh Maddirevula, Fabíola Paoli Monteiro, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A. Hamed, Mustafa A. Salih, Saeed Al Tala, Mais Hashem, Hiroko Tada, Hirotomo Saitsu, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S. Alkuraya, Binnaz Yalcin, Juliette D. Godin

    Published 2023
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  18. 18
    Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

    Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay by Uirá Souto Melo, Devon Bonner, K. C. Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue, Lynette Bower, Brian C. Leonard, Davi Jardim Martins, Fernando Gomes, Felipe de Souza Leite, Danyllo Oliveira, João Paulo Kitajima, Fabíola Paoli Monteiro, Mayana Zatz, Carlos Frederico Martins Menck, Matthew T. Wheeler, Jonathan A. Bernstein, Kevin Dumas, Elizabeth Spiteri, Nataliya Di Donato, Arne Jahn, Mais Hashem, Hessa S. Alsaif, Aziza Chedrawi, Fowzan S. Alkuraya, Fernando Kok, Heather M. Byers

    Published 2021
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  19. 19
    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies by Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya, Shamsa Anazi, Hadeel Alsharif, Arif O. Khan, Asma Sunker, Saleh Al-mohsen, Emad B. Abboud, Sawsan R. Nowilaty, Mohammed Al‐Owain, Hamad Alzaidan, Bandar Al‐Saud, Ali Alasmari, Ghada M. H. Abdel‐Salam, Mohamed Abouelhoda, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Abeer Al‐Mostafa, Abdulelah AlIssa, Mais Hashem, Olga Buzovetsky, Yong Xiong, Dorota Monies, Nada Al Tassan, Ranad Shaheen, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    Published 2015
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  20. 20
    Molecular autopsy in maternal–fetal medicine

    Molecular autopsy in maternal–fetal medicine by Hanan E. Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb A. Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Z. Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed M Kurdi, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El‐Akouri, Mariam Al Mulla, Tawfeg Ben‐Omran, Matthias Pergande, Sebahattin Çırak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S. Alkuraya

    Published 2017
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