Resultados de procura - Hessa S. Alsaif

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  1. 1
    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 2020
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  2. 2
    Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

    Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2 por Sateesh Maddirevula, Serdar Coşkun, Saad S. M. Hassan, Atif Elnour, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Stefan T. Arold, Fowzan S. Alkuraya

    Publicado 2017
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  3. 3
    Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

    Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome por Hessa S. Alsaif, Mohammad Al-Owain, Martin E. Barrios‐Llerena, Ghada Gosadi, Yousef Binamer, David Devadason, Jane Ravenscroft, Mohnish Suri, Fowzan S. Alkuraya

    Publicado 2019
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  4. 4
    Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

    Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants por Sateesh Maddirevula, Hamoud Alhebbi, Awad Alqahtani, Talal Algoufi, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Mohammed Barr, Hamad Alzaidan, Ali Almehaideb, Omai AlSasi, Amal Alhashem, Hussa Al Hussaini, Sami Wali, Fowzan S. Alkuraya

    Publicado 2018
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  5. 5
    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract por 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

    Publicado 2016
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  6. 6
    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 por 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

    Publicado 2018
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  7. 7
    Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

    Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome por Yin‐Huai Chen, Giedre Grigelioniené, Phillip T Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S. Alsaif, Wesam Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Céline Huber, Ben C.J. Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner, Andrei S. Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S. Alkuraya, Arian Laurence, Valérie Cormier‐Daire, Holm H. Uhlig

    Publicado 2020
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  8. 8
    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 por 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

    Publicado 2020
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  9. 9
    KDM5A mutations identified in autism spectrum disorder using forward genetics

    KDM5A mutations identified in autism spectrum disorder using forward genetics por Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem, Jamie L. Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S. Alsaif, Abolfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R. DuPont, Raymond J. Louie, Madeline Couse, Maha Faden, R. Curtis Rogers, Rami Abou Jamra, Ellen Roy Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H. Chahrour

    Publicado 2020
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  10. 10
    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 por 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

    Publicado 2021
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  11. 11
    Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

    Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans por Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron‐Prunier, Fumi Suomi, David Zhang, Ubaldo Martinez‐Outschoorn, Nicolas Leboucq, Angela Bahr, Silvia Azzarello‐Burri, Selina Reich, Lüdger Schöls, Tuomo Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Züchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnés Delahodde, Thomas G. McWilliams, M. Kœnig, Robert W. Taylor

    Publicado 2021
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  12. 12
    Autozygome and high throughput confirmation of disease genes candidacy

    Autozygome and high throughput confirmation of disease genes candidacy por Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain, Mohammad A. Al Muhaizea, Husam Kayyali, Amal Alhashem, Zuhair Rahbeeni, Maha Alotaibi, Hamad Alzaidan, Ameera Balobaid, Heba Y. El Khashab, Dalal Bubshait, Maha Faden, Suad Al Yamani, Omar Dabbagh, Mariam Almureikhi, Abdulla Al Jasser, Hessa S. Alsaif, Iram Alluhaydan, Mohammed Zain Seidahmed, Bashair Alabbasi, Ibrahim Al‐Mogarri, Wesam Kurdi, Hana Akleh, Alya Qari, Saeed M. Al Tala, Suzan Alhomaidi, Amal Y. Kentab, Mustafa A. Salih, Aziza Chedrawi, Seham Alameer, Brahim Tabarki, Hanan E. Shamseldin, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Menasria Samira, Ewa Goljan, Mohamed Abouelhoda, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Saad AlShahwan, Majid Alfadhel, Tawfeg Ben‐Omran, Mohammad M. Al‐Qattan, Dorota Monies, Fowzan S. Alkuraya

    Publicado 2018
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  13. 13
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia por Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya

    Publicado 2018
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  14. 14
    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism por John J. Reynolds, Louise S. Bicknell, Paula Carroll, Martin R. Higgs, Ranad Shaheen, Jennie Murray, Dimitrios K. Papadopoulos, Andrea Leitch, Olga Murina, Žygimantė Tarnauskaitė, Sarah R. Wessel, Anastasia Zlatanou, Audrey Vernet, Alex von Kriegsheim, Rachel M.A. Mottram, Clare V. Logan, Hannah Bye, Yun Li, Alexander Brean, Sateesh Maddirevula, Rachel Challis, Kassiani Skouloudaki, Agaadir Almoisheer, Hessa S. Alsaif, Ariella Amar, Natalie J. Prescott, Michael B. Bober, Angela L. Duker, Eissa Faqeih, Mohammed Zain Seidahmed, Saeed Al Tala, Abdulrahman Alswaid, Saleem Ahmed, Jumana Y. Al‐Aama, Janine Altmüller, Mohammed Al Balwi, Angela F. Brady, Luciana Chessa, Helen Cox, Rita Fischetto, Raoul Heller, B Henderson, Emma Hobson, Peter Nürnberg, E. Ferda Perçin, Angela Peron, Luigina Spaccini, Alan J. Quigley, Seema Thakur, Carol A. Wise, Grace Yoon, Maha Alnemer, Pavel Tomančák, Gökhan Yigit, A. Malcolm R. Taylor, Martin A.M. Reijns, Michael A. Simpson, David Cortez, Fowzan S. Alkuraya, Christopher G. Mathew, Andrew P. Jackson, Grant S. Stewart

    Publicado 2017
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  15. 15
    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants por Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden

    Publicado 2020
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