Søgeresultater - Ilham Ratbi

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  1. 1
    A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review

    A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review af Elalaoui, Siham Chafai, Mariam, Tajir, Ilham, Ratbi, Yassamine, Doubaj, Abdelaziz, Sefiani

    Udgivet 2011
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  2. 2
    Renal amyloidosis due to familial mediterranean fever misdiagnosed

    Renal amyloidosis due to familial mediterranean fever misdiagnosed af Hama, Iman, Ilham, Ratbi, Ouzeddoun, Naima, Alhamany, Zaitouna, Bayahia, Radia, Sefiani, Abdelaziz

    Udgivet 2012
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  3. 3
    Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

    Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and i... af Ilham Ratbi, Marie Legendre, Florence Niel, Josiane Martin, Jean-Claude Soufir, Vincent Izard, Bruno Costes, Cathérine Costa, Michel Goossens, Emmanuelle Girodon

    Udgivet 2007
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  4. 4
    Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome

    Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome af Mike Gerards, Rick Kamps, Jo van Oevelen, Iris Boesten, Eveline Jongen, Bart de Koning, H.R. Scholte, Isabel de Angst, Kees Schoonderwoerd, Abdelaziz Sefiani, Ilham Ratbi, Wouter Coppieters, Latifa Karim, I.F.M. de Coo, Bianca van den Bosch, Hubert J.M. Smeets

    Udgivet 2013
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  5. 5
    Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

    Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 af Ilham Ratbi, Kim D. Falkenberg, Manou Sommen, Nada Al-Sheqaih, Soukaina Guaoua, Geert Vandeweyer, Jill Urquhart, Kate Chandler, Simon G. Williams, Neil Roberts, Mustapha El Alloussi, Graeme Black, Sacha Ferdinandusse, Hind Ramdi, Audrey Heimler, Alan Fryer, Sally Ann Lynch, Nicola Cooper, Kai Ren Ong, Claire E. L. Smith, C.F. Inglehearn, Alan J. Mighell, Claire Elcock, James A. Poulter, Marc Tischkowitz, Sally Davies, Abdelaziz Sefiani, Mironov Aa, William G. Newman, Hans R. Waterham, Guy Van Camp

    Udgivet 2015
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  6. 6
    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability af Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A. Nannenberg, Lamiae Boualla, Nico A. Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep H. Coban Akdemir, Richard J. Fish, Mohammad K. Eldomery, Ilham Ratbi, Arthur A.M. Wilde, Teun P. de Boer, William F. Simonds, Marguerite Neerman‐Arbez, V. Reid Sutton, Fernando Kok, James R. Lupski, Alexandre Reymond, Connie R. Bezzina, Jeroen Bakkers, Giuseppe Merla

    Udgivet 2016
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  7. 7
    De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

    De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development af Christopher T. Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara Beck, Ruth McGowan, Alex Magee, Janine Altmüller, Camille Dion, Hölger Thiele, Alexandra D. Gurzau, Peter Nürnberg, Dieter Meschede, W. Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S. Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bôle‐Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbįlek, Audrey S.M. Teo, Michael L. Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M. Murphy, Chalermpong Chatdokmaiprai, Axel M. Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E. Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade

    Udgivet 2017
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