Søgeresultater - Atieh Eslahi

  • Showing 1 - 4 results of 4
Refine Results
  1. 1
    PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

    PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment af Massimo Zollo, Momin Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed H. Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al‐Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E. Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, K. Sunil, Maria Monti, Gaurav V. Harlalka, Michael A. Simpson, Philip Rich, Fatema Al-Salmi, Michael A. Patton, Barry A. Chioza, Stéphanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G. Hanna, Piero Pucci, Henry Houlden, James R. Lupski, Andrew H. Crosby, Emma L. Baple

    Udgivet 2017
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  2. 2
    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease af Gillian Rice, Naoki Kitabayashi, Magalie Barth, Tracy A. Briggs, Annabel Burton, Maria Luisa Carpanelli, Alfredo Cerisola, Cindy Colson, Russell C. Dale, Federica Rachele Danti, Niklas Darín, Begoña De Azua, Valentina De Giorgis, Christian De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael Fahey, Penny Fallon, Alex J. Fay, Elisa Fazzi, Mark Gorman, Nirmala Gowrinathan, Marie Hully, Manju A. Kurian, Nicolas Leboucq, Jean‐Pierre Lin, Matthew A. Lines, Soe Mar, Reza Maroofian, Laura Martí‐Sánchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Florence Petit, Keri Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez‐Pombo, Agathe Roubertie, Tommy Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H. Livingston, Yanick J. Crow

    Udgivet 2017
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  3. 3
    Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

    Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases af Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G. Monaghan, Amber Begtrup, Rebecca I. Torene, Amna Al‐Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik-Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcová, Faisal Zafar, Nuzhat Rana, Krishna Kumar Kandaswamy, Jozef Hertecant, Peter Bauer, Mohammed A. AlMuhaizea, Mustafa A. Salih, Mazhor Aldosary, Rawan Almass, Laila AlQuait, Wafa Qubbaj, Serdar Coşkun, Khaled O. Alahmadi, Muddathir H. Hamad, Salem Alwadaee, Khalid Awartani, Anas Dababo, Futwan Al‐Mohanna, Dilek Çolak, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Murat Günel, A. Gulhan Ercan‐Sencicek, Gouri Rao Passi, Huma Arshad Cheema, Stéphanie Efthymiou, Henry Houlden, Aida M. Bertoli‐Avella, Alice S. Brooks, Kyle Retterer, Reza Maroofian, Namik Kaya, Tjakko J. van Ham, Tahsin Stefan Barakat

    Udgivet 2019
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  4. 4
    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 af 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

    Udgivet 2020
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:

Søgeredskaber: