Search Results - Mashael Alqahtani

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  1. 1
    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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  2. 2
    A genomics approach to male infertility

    A genomics approach to male infertility by Naif Alhathal, Sateesh Maddirevula, Serdar Coşkun, Hamed Alali, Mirna Assoum, T.J. Morris, Hesham A. Deek, Soha A. Hamed, Shaheed Alsuhaibani, Abdulmalik Mirdawi, Nour Ewida, Mashael Alqahtani, Niema Ibrahim, Firdous Abdulwahab, Waleed Altaweel, Majed Dasouki, Abdullah M. Assiri, Wafa Qabbaj, Fowzan S. Alkuraya

    Published 2020
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  3. 3
    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases by Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Mohammed Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al‐Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Al Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya Hagos, Wijdan Al‐Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S.A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen M. Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed‐Eddine Gallouzi, Fowzan S. Alkuraya

    Published 2023
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  4. 4
    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

    Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families by Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Afaf Alsagheir, Ahmad M. Mansour, Ali Alawaji, Amal Aldhilan, Amal Alhashem, Amal Al‐Hemidan, Amira Nabil, Arif O. Khan, Aziza Aljohar, Badr Alsaleem, Brahim Tabarki, Charles Marques Lourenço, Eissa Faqeih, Essam Al Shail, Fatima Almesaifri, Fuad Al Mutairi, Hamad Alzaidan, Heba Morsy, Hind Alshihry, Hisham Alkuraya, Katta M. Girisha, Khawla Al-Fayez, Khalid Al‐Rubeaan, Lilia Kraoua, Maha Alnemer, Maha Tulbah, Maha S. Zaki, Majid Alfadhel, Mohammed Abouelhoda, Marjan M. Nezarati, Mohammad M. Al‐Qattan, Mohammad Shboul, Mohammed Abanemai, Mohammad A. Al–Muhaizea, Mohammed Al‐Owain, Mohammed Sameer Bafaqeeh, Muneera J. Alshammari, Musaad Abukhalid, Nada Alsahan, Nada Derar, Neama Meriki, Saeed Bohlega, Saeed Al Tala, Saad S. M. Hassan, Sami Wali, Sarar Mohamed, Serdar Coşkun, Sermin Saadeh, Tinatin Tkemaladze, Wesam Kurdi, Zainab Alhumaidi, Zuhair Rahbeeni, Fowzan S. Alkuraya

    Published 2023
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  5. 5
    The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

    The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants by Marie Materna, Ottavia M. Delmonte, Marita Bosticardo, Mana Momenilandi, Peyton Conrey, Bénédicte Charmeteau-De Muylder, Clotilde Bravetti, Rebecca Bellworthy, Axel Cederholm, Frederik Staels, Christian A. Ganoza, Samuel Darko, Samir Sayed, Corentin Le Floc’h, Masato Ogishi, Darawan Rinchai, Andrea Guenoun, Alexandre Bolze, Taushif Khan, Adrian Gervais, Renate Krüger, Mirjam Völler, Boaz Palterer, Mahnaz Sadeghi‐Shabestari, Anne Langlois de Septenville, Chaim A. Schramm, Sanjana Shah, John James Tello Cajiao, Francesca Pala, Kayla Amini, Jose Campos, Noemia S. Lima, Daniel Eriksson, Romain Lévy, Yoann Seeleuthner, Soma Jyonouchi, Manar Ata, Fatima Al Ali, Caroline Deswarte, A B Pereira, Jérôme Mégret, Tom Le Voyer, Paul Bastard, Laureline Berteloot, Michaël Dussiot, Natasha Vladikine, Paula P. Cárdenas, Emmanuelle Jouanguy, Mashael Alqahtani, Amal Hasan, Thangavel Alphonse Thanaraj, Jérémie Rosain, Fahd Al Qureshah, Vito Sabato, Marie Alexandra Alyanakian, Marianne Leruez‐Ville, Flore Rozenberg, Élie Haddad, José R. Regueiro, Marı́a L. Toribio, Judith R. Kelsen, Mansoor Salehi, Shahram Nasiri, Mehdi Torabizadeh, Hassan Rokni‐Zadeh, Majid Changi‐Ashtiani, Nasimeh Vatandoost, Hossein Moravej, Seyed Mohammad Akrami, Mohsen Mazloomrezaei, Aurélie Cobat, Isabelle Meyts, Etsushi Toyofuku, Madoka Nishimura, Kunihiko Moriya, Tomoyuki Mizukami, Kohsuke Imai, Laurent Abel, Bernard Malissen, Fahd Al‐Mulla, Fowzan S. Alkuraya, Nima Parvaneh, Horst von Bernuth, Christian Beetz, Frédéric Davi, Daniel C. Douek, Rémi Cheynier, David Langlais, Nils Landegren, Nico Marr, Tomohiro Morio, Mohammad Shahrooei, Rik Schrijvers, Sarah E. Henrickson, Hervé Luche, Luigi D. Notarangelo, Jean‐Laurent Casanova, Vivien Béziat

    Published 2024
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