Хайлтын үр дүнгүүд - Iman G. Mahmoud

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  1. 1
    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 -н 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

    Хэвлэсэн 2016
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    Artigo
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  2. 2
    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

    Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants -н 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

    Хэвлэсэн 2015
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    Artigo
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  3. 3
    Biallelic variants in KIF14 cause intellectual disability with microcephaly

    Biallelic variants in KIF14 cause intellectual disability with microcephaly -н 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

    Хэвлэсэн 2018
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    Artigo
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  4. 4
    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 -н 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

    Хэвлэсэн 2015
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    Artigo
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  5. 5
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders -н 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

    Хэвлэсэн 2014
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    Artigo
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