Výsledky vyhledávání - Laila Selim

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  1. 1
    Characterisation of COVID-19 Pandemic in Paediatric Age Group: A Systematic Review and Meta-Analysis

    Characterisation of COVID-19 Pandemic in Paediatric Age Group: A Systematic Review and Meta-Analysis Autor Naira Mustafa, Laila Selim

    Vydáno 2020
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    Revisão
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  2. 2
    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive

    <i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive Autor Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Y. Issa, Hea‐Jin Jung, Esra Dikoglu, Laila Selim, Imam G. Mahmoud, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Isaac Marin‐Valencia, Joseph G. Gleeson

    Vydáno 2016
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    Artigo
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  3. 3
    Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study

    Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study Autor Ahmed S. Hassan, Fatma El‐Mougy, Sahar Sharaf, Iman Mandour, Marian F. Morgan, Laila Selim, Sawsan Hassan, Fadia Salem, Azza Oraby, Marian Girgis, Iman G. Mahmoud, Amira El-Badawy, Ibrahim El-Nekhely, Nadia Moharam, Dina Mehaney, Mohamed A. Elmonem

    Vydáno 2016
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    Artigo
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  4. 4
    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants Autor Simon Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin G. Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David N. Finegold, J. Jay Gargus, Ornella Guardamagna, Christian J. Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila Selim, Chester B. Whitley, Osama K. Zaki, Anthony G. Quinn

    Vydáno 2015
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    Artigo
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  5. 5
    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology Autor Sahar Elouej, Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean‐François Deleuze, Agnès Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande‐Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre‐Giovannoli

    Vydáno 2020
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    Artigo
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  6. 6
    Exome Sequencing Can Improve Diagnosis and Alter Patient Management

    Exome Sequencing Can Improve Diagnosis and Alter Patient Management Autor Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Lobna Mansour, Laila Selim, Sawsan Abdel-Hadi, Naïma Marzouki, Tawfeg Ben‐Omran, Nouriya A. Al-Saana, F.M. Sonmez, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran Garimella, Carrie Sougnez, Carsten Russ, Stacey Gabriel, Joseph G. Gleeson

    Vydáno 2012
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    Artigo
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  7. 7
    Biallelic variants in KIF14 cause intellectual disability with microcephaly

    Biallelic variants in KIF14 cause intellectual disability with microcephaly Autor Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen, Damir Musaev, Maha S. Zaki, Iman G. Mahmoud, Laila Selim, Amera Elbadawy, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Tomasz Gambin, Hanne Sørmo Sorte, Arvid Heiberg, Jennifer McEvoy‐Venneri, Kiely N. James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G. Gleeson, James R. Lupski, Ehsan Ghayoor Karimiani, Stylianos E. Antonarakis

    Vydáno 2018
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    Artigo
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  8. 8
    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia Autor Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul‐Sada, Christina Hung, Michael A. Simpson, W.K. Chong, Thomas S. Jacques, Randy Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn Maher, John Spencer, Ania Straatman‐Iwanowska, Paul Gissen, Laila Selim, Guillem Pintos‐Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson

    Vydáno 2016
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    Artigo
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  9. 9
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Autor Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Vydáno 2015
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    Artigo
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  10. 10
    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder Autor Caroline Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stéphanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehli̇van, Jennifer N. Partlow, Jennifer E. Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M. Al Menabawy, Laila Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, D.L. Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller‐Ramey, L. Kathryn Durham, Zeynep Coban‐Akdemir, Ender Karaca, Valeria V. Orlova, Lieke Schaeken, Amir Sherafat, Shalini N. Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G. Gleeson, Christopher A. Walsh, James R. Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian

    Vydáno 2019
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    Artigo
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  11. 11
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy Autor Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Vydáno 2022
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  12. 12
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders Autor Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson

    Vydáno 2014
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    Artigo
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  13. 13
    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Autor Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaëtan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot‐Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, María J. Miranda, Maja Hempel, Eva H. Brilstra, Nine Knoers, Nienke E. Verbeek, Marjan van Kempen, Kees P. J. Braun, Grazia M.S. Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily C. Wong‐Kisiel, Friedrich Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt‐Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, C. Finetti, Reinhard Brückner, Joachim Pietz, G. Golla, Dinesh Jillella, Karen Markussen Linnet, Perrine Charles, Ute Moog, Eve Õiglane‐Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, Georg-Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter De Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh‐Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller

    Vydáno 2017
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  14. 14
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Autor Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    Vydáno 2020
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