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There are 2879 results for: content related to: Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array

  1. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1965–1975, Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, Dorothée Cailley, Julie Bouron, Jérôme Toutain, Georges Bourrouillou, Adeline Vigouroux, Laurence Bouneau, Fabienne Nacka, Isabelle Kieffer, Benoit Arveiler, Anja Knoll-Gellida, Patrick J. Babin, Eric Bieth, Béatrice Jouret, Sophie Julia, Pierre Sarda, David Geneviève, Laurence Faivre, Didier Lacombe, Pascal Barat, Maithé Tauber, Marie-Ange Delrue and Caroline Rooryck

    Version of Record online : 29 APR 2014, DOI: 10.1002/ajmg.a.36587

  2. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 552–559, G Storkanova, H Vlaskova, N Chuzhanova, J Zeman, V Stranecky, F Majer, K Peskova, O Luksan, M Jirsa, M Hrebicek and L Dvorakova

    Version of Record online : 7 FEB 2013, DOI: 10.1111/cge.12085

  3. Models for institutional and professional accreditation of haemophilia centres in Italy

    Haemophilia

    Volume 19, Issue 4, July 2013, Pages: e248–e255, G. Calizzani, S. Vaglio, R. Arcieri, I. Menichini, A. Tagliaferri, S. Antoncecchi, M. T. Carloni, A. Breda, E. Santagostino, A. Ghirardini, M. R. Tamburrini, M. Morfini, P. M. Mannucci and G. Grazzini

    Version of Record online : 4 APR 2013, DOI: 10.1111/hae.12141

  4. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Clinical Genetics

    E. Chérot, B. Keren, C. Dubourg, W. Carré, M. Fradin, A. Lavillaureix, A. Afenjar, L. Burglen, S. Whalen, P. Charles, I. Marey, S. Heide, A. Jacquette, D. Heron, D. Doummar, D. Rodriguez, T. Billette de Villemeur, M.-L. Moutard, A. Guët, J. Xavier, D. Périsse, D. Cohen, F. Demurger, C. Quélin, C. Depienne, S. Odent, C. Nava, V. David, L. Pasquier and C. Mignot

    Version of Record online : 4 OCT 2017, DOI: 10.1111/cge.13102

  5. Pathogenic Mechanisms and Clinical Consequences of Chromosomal Aberrations in Man

    Standard Article

    eLS

    Martin Poot and Ron Hochstenbach

    Published Online : 15 OCT 2015, DOI: 10.1002/9780470015902.a0026379

  6. You have free access to this content
    Structural and geochronological evidence for Paleogene thrusting in the western Rhodopes, SW Bulgaria: Elements for a new tectonic model of the Rhodope Metamorphic Province

    Tectonics

    Volume 29, Issue 3, June 2010, Silke Jahn-Awe, Nikolaus Froitzheim, Thorsten J. Nagel, Dirk Frei, Neven Georgiev and Jan Pleuger

    Version of Record online : 4 JUN 2010, DOI: 10.1029/2009TC002558

  7. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 118–128, Chahira Kozma, Anne M. Slavotinek and Jeanne M. Meck

    Version of Record online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20332

  8. The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations

    Standard Article

    eLS

    Angela Peron and John C Carey

    Published Online : 14 NOV 2014, DOI: 10.1002/9780470015902.a0025246

  9. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions

    Haemophilia

    Volume 11, Issue 5, September 2005, Pages: 481–491, G. Jayandharan, R. V. Shaji, S. Baidya, S. C. Nair, M. Chandy and A. Srivastava

    Version of Record online : 26 AUG 2005, DOI: 10.1111/j.1365-2516.2005.01121.x

  10. Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature

    American Journal of Medical Genetics Part A

    Volume 173, Issue 6, June 2017, Pages: 1673–1680, Chad Douglas, Stephen A. Smith and Luis Rohena

    Version of Record online : 10 APR 2017, DOI: 10.1002/ajmg.a.38192

  11. Outfoxed by RBFOX1-A caution about ascertainment bias

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1411–1418, Benjamin Kamien, Anath C. Lionel, Nicole Bain, Stephen W. Scherer and Matthew Hunter

    Version of Record online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36458

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    Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 233–246, L. Fontana, B. Gentilin, L. Fedele, C. Gervasini and M. Miozzo

    Version of Record online : 16 NOV 2016, DOI: 10.1111/cge.12883

  13. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 756–763, R. Webster, M.T. Cho, K. Retterer, F. Millan, C. Nowak, J. Douglas, A. Ahmad, G.V. Raymond, M.R. Johnson, A. Pujol, A. Begtrup, D. McKnight, O. Devinsky and W.K. Chung

    Version of Record online : 29 SEP 2016, DOI: 10.1111/cge.12854

  14. KCNQ1 mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1

    American Journal of Medical Genetics Part A

    Volume 170, Issue 6, June 2016, Pages: 1510–1519, Bijal Vyas, Ratna D. Puri, Narayanan Namboodiri, Mohan Nair, Deepak Sharma, Sireesha Movva, Renu Saxena, Shomu Bohora, Neeraj Aggarwal, Amit Vora, Jatinder Kumar, Tarandeep Singh and Ishwar C. Verma

    Version of Record online : 4 APR 2016, DOI: 10.1002/ajmg.a.37636

  15. Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 93–98, G. Longo, S. Russo, G. Novelli, F. Sangiuolo and M.R. D'Apice

    Version of Record online : 29 SEP 2015, DOI: 10.1111/cge.12674

  16. Delineation of 15q13.3 microdeletions

    Clinical Genetics

    Volume 78, Issue 2, August 2010, Pages: 149–161, A Masurel-Paulet, J Andrieux, P Callier, JM Cuisset, C Le Caignec, M Holder, C Thauvin-Robinet, B Doray, E Flori, MP Alex-Cordier, M Beri, O Boute, B Delobel, A Dieux, L Vallee, S Jaillard, S Odent, B Isidor, C Beneteau, J Vigneron, F Bilan, B Gilbert-Dussardier, C Dubourg, A Labalme, C Bidon, A Gautier, P Pernes, JM Pinoit, F Huet, F Mugneret, B Aral, P Jonveaux, D Sanlaville and L Faivre

    Version of Record online : 9 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01374.x

  17. Carnitine supplementation for inborn errors of metabolism

    Intervention Review

    The Cochrane Library

    Mona Nasser, Hoda Javaheri, Zbys Fedorowicz and Zaman Noorani

    Published Online : 15 FEB 2012, DOI: 10.1002/14651858.CD006659.pub3

  18. Behavioral profiles of mouse models for autism spectrum disorders

    Autism Research

    Volume 4, Issue 1, February 2011, Pages: 5–16, Elodie Ey, Claire S. Leblond and Thomas Bourgeron

    Version of Record online : 5 JAN 2011, DOI: 10.1002/aur.175

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    Aspirin and/or heparin for women with unexplained recurrent miscarriage with or without inherited thrombophilia

    Intervention Review

    The Cochrane Library

    Paulien G de Jong, Stef Kaandorp, Marcello Di Nisio, Mariëtte Goddijn and Saskia Middeldorp

    Published Online : 4 JUL 2014, DOI: 10.1002/14651858.CD004734.pub4

  20. Assessment of heritable genetic effects using new genetic tools and sentinels in an era of personalized medicine

    Environmental and Molecular Mutagenesis

    Volume 52, Issue 4, May 2011, Pages: 253–263, Rosalie K. Elespuru

    Version of Record online : 6 JAN 2011, DOI: 10.1002/em.20637