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There are 1126648 results for: content related to: 190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

  1. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Version of Record online : 18 MAR 2013, DOI: 10.1111/cge.12094

  2. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 464–469, F. Petit, A.-S. Jourdain, J. Andrieux, G. Baujat, C. Baumann, C. Beneteau, A. David, L. Faivre, D. Gaillard, B. Gilbert-Dussardier, P.-S. Jouk, C. Le Caignec, P. Loget, L. Pasquier, N. Porchet, M. Holder-Espinasse, S. Manouvrier-Hanu and F. Escande

    Version of Record online : 15 JUL 2013, DOI: 10.1111/cge.12219

  3. You have free access to this content
    Quantum Dots: Synthesis of Colloidal Indium Antimonide Nanocrystals Using Stibine (Part. Part. Syst. Charact. 10/2013)

    Particle & Particle Systems Characterization

    Volume 30, Issue 10, October 2013, Page: 821, Axel Maurice, Miguel Lopez Haro, Bérangère Hyot and Peter Reiss

    Version of Record online : 9 OCT 2013, DOI: 10.1002/ppsc.201370038

  4. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 326–334, N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye, J.-L. Alessandri, O. Boespflug-Tanguy, O. Boute-Benejean, H. Dollfus, B. Duban-Bedu, B. Gilbert-Dussardier, F. Giuliano, M. Gonzales, M. Holder-Espinasse, B. Isidor, M.-L. Jacquemont, D. Lacombe, D. Martin-Coignard, M. Mathieu-Dramard, S. Odent, O. Picone, L. Pinson, C. Quelin, S. Sigaudy, A. Toutain, C. Thauvin-Robinet, Josseline Kaplan and Patrick Calvas

    Version of Record online : 7 OCT 2013, DOI: 10.1111/cge.12275

  5. Synthesis of Colloidal Indium Antimonide Nanocrystals Using Stibine

    Particle & Particle Systems Characterization

    Volume 30, Issue 10, October 2013, Pages: 828–831, Axel Maurice, Miguel Lopez Haro, Bérangère Hyot and Peter Reiss

    Version of Record online : 10 JUN 2013, DOI: 10.1002/ppsc.201300137

  6. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 476–481, E. Schaefer, J. Lauer, M. Durand, V. Pelletier, C. Obringer, A. Claussmann, J.-J. Braun, C. Redin, C. Mathis, J. Muller, C. Schmidt-Mutter, E. Flori, V. Marion, C. Stoetzel and H. Dollfus

    Version of Record online : 12 JUN 2013, DOI: 10.1111/cge.12198

  7. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 576–588, S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon, T. Bienvenu, S. Chantot-Bastaraud, M. Doco-Fenzy, E. Landais, C. Philippe, N. Marle, P. Callier, A.-L. Mosca-Boidron, F. Mugneret, N. Le Meur, A. Goldenberg, A.-M. Guerrot, P. Chambon, V. Satre, C. Coutton, P.-S. Jouk, F. Devillard, K. Dieterich, A. Afenjar, L. Burglen, M.-L. Moutard, M.-C. Addor, S. Lebon, D. Martinet, J.-L. Alessandri, B. Doray, M. Miguet, D. Devys, P. Saugier-Veber, S. Drunat, B. Aral, V. Kremer, S. Rondeau, A.-C. Tabet, J. Thevenon, C. Thauvin-Robinet, N. Perreton, V. Des Portes and L. Faivre

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12898

  8. A Gadolinium Complex Confined in Silica Nanoparticles as a Highly Efficient T1/T2 MRI Contrast Agent

    Chemistry - A European Journal

    Volume 19, Issue 22, May 27, 2013, Pages: 6980–6983, Dr. Nicolas Wartenberg, Dr. Pascal Fries, Dr. Olivier Raccurt, Dr. Armel Guillermo, Dr. Daniel Imbert and Dr. Marinella Mazzanti

    Version of Record online : 18 APR 2013, DOI: 10.1002/chem.201300635

  9. You have full text access to this OnlineOpen article
    Identification of a novel BET bromodomain inhibitor-sensitive, gene regulatory circuit that controls Rituximab response and tumour growth in aggressive lymphoid cancers

    EMBO Molecular Medicine

    Volume 5, Issue 8, August 2013, Pages: 1180–1195, Anouk Emadali, Sophie Rousseaux, Juliana Bruder-Costa, Claire Rome, Samuel Duley, Sieme Hamaidia, Patricia Betton, Alexandra Debernardi, Dominique Leroux, Benoit Bernay, Sylvie Kieffer-Jaquinod, Florence Combes, Elena Ferri, Charles E. McKenna, Carlo Petosa, Christophe Bruley, Jérôme Garin, Myriam Ferro, Rémy Gressin, Mary B. Callanan and Saadi Khochbin

    Version of Record online : 4 JUL 2013, DOI: 10.1002/emmm.201202034

  10. AlGaN/AlN quantum dots for UV light emitters

    physica status solidi (c)

    Volume 10, Issue 3, March 2013, Pages: 285–288, C. Himwas, M. den Hertog, F. Donatini, Le Si Dang, L. Rapenne, E. Sarigiannidou, R. Songmuang and E. Monroy

    Version of Record online : 7 FEB 2013, DOI: 10.1002/pssc.201200679

  11. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12138

  12. Structural and optical properties of Alx Ga1–xN nanowires

    physica status solidi (RRL) - Rapid Research Letters

    Volume 7, Issue 10, October 2013, Pages: 868–873, A. Pierret, C. Bougerol, M. den Hertog, B. Gayral, M. Kociak, H. Renevier and B. Daudin

    Version of Record online : 23 JUL 2013, DOI: 10.1002/pssr.201308009

  13. The Structural Plasticity of the Proximal [4Fe3S] Cluster is Responsible for the O2 Tolerance of Membrane-Bound [NiFe] Hydrogenases

    Angewandte Chemie International Edition

    Volume 52, Issue 7, February 11, 2013, Pages: 2002–2006, Dr. Jean-Marie Mouesca, Dr. Juan C. Fontecilla-Camps and Dr. Patricia Amara

    Version of Record online : 7 JAN 2013, DOI: 10.1002/anie.201209063

  14. The diagnostic yield of chromosomal microarray analysis in fetuses with increased nuchal translucency: a French multicentre retrospective study

    Ultrasound in Obstetrics & Gynecology

    Accepted manuscript online: 13 OCT 2017, Matthieu Egloff, Bérénice Hervé, Thibaud Quibel, Sylvie Jaillard, Gwenaelle Le Bouar, Kevin Uguen, Anne-Hélène Saliou, Mylène Valduga, Estelle Perdriolle, Charles Coutton, Anne-Laure Coston, Aurélie Coussement, Olivia Anselem, Chantal Missirian, Florence Bretelle, Fabienne Prieur, Cécile Fanget, Christine Muti, Marie-Christine Jacquemot, Claire Beneteau, Claudine Le Vaillant, Michel Vekemans, Laurent J. Salomon, François Vialard and Valerie Malan

    DOI: 10.1002/uog.18928

  15. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Version of Record online : 23 JUL 2013, DOI: 10.1111/cge.12225

  16. You have free access to this content
    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12191

  17. Amorphous Zinc Stannate (Zn2SnO4) Nanofibers Networks as Photoelectrodes for Organic Dye-Sensitized Solar Cells

    Advanced Functional Materials

    Volume 23, Issue 25, July 5, 2013, Pages: 3146–3155, Seung-Hoon Choi, Daesub Hwang, Dong-Young Kim, Yann Kervella, Pascale Maldivi, Sung-Yeon Jang, Renaud Demadrille and Il-Doo Kim

    Version of Record online : 6 FEB 2013, DOI: 10.1002/adfm.201203278

  18. MreB and MurG as scaffolds for the cytoplasmic steps of peptidoglycan biosynthesis

    Environmental Microbiology

    Volume 15, Issue 12, December 2013, Pages: 3218–3228, Sandy Favini-Stabile, Carlos Contreras-Martel, Nicole Thielens and Andréa Dessen

    Version of Record online : 4 JUL 2013, DOI: 10.1111/1462-2920.12171

  19. You have free access to this content
    Photometric properties of Mars soils analogs

    Journal of Geophysical Research: Planets

    Volume 118, Issue 10, October 2013, Pages: 2045–2072, A. Pommerol, N. Thomas, B. Jost, P. Beck, C. Okubo and A. S. McEwen

    Version of Record online : 3 OCT 2013, DOI: 10.1002/jgre.20158

  20. Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Version of Record online : 6 AUG 2013, DOI: 10.1111/cge.12229