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There are 13985 results for: content related to: Venous malformations of the temporal bone are a common feature in CHARGE syndrome

  1. Spontaneous postnatal growth is reduced in children with CHARGE syndrome

    Acta Paediatrica

    Volume 104, Issue 7, July 2015, Pages: e314–e318, Helmuth G Dörr, Julia Madeja and Claudia Junghans

    Version of Record online : 11 MAR 2015, DOI: 10.1111/apa.12980

  2. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 674–686, Gabriel E. Zentner, Wanda S. Layman, Donna M. Martin and Peter C. Scacheri

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33323

  3. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 125–134, E Husu, HD Hove, S Farholt, M Bille, L Tranebjærg, I Vogel and S Kreiborg

    Version of Record online : 30 APR 2012, DOI: 10.1111/j.1399-0004.2012.01884.x

  4. Chromodomain proteins in development: lessons from CHARGE syndrome

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 11–20, WS Layman, EA Hurd and DM Martin

    Version of Record online : 8 APR 2010, DOI: 10.1111/j.1399-0004.2010.01446.x

  5. LEOPARD Syndrome: What Are Café Noir Spots?

    Pediatric Dermatology

    Volume 25, Issue 4, July/August 2008, Pages: 444–448, Alfonso Rodríguez Bujaldón

    Version of Record online : 7 AUG 2008, DOI: 10.1111/j.1525-1470.2008.00734.x

    Corrected by:

    Errata

    Vol. 26, Issue 1, 127, Version of Record online: 16 FEB 2009

  6. Mutation update on the CHD7 gene involved in CHARGE syndrome

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1149–1160, Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M. W. Hofstra, Conny M. A. van Ravenswaaij-Arts and Lies H. Hoefsloot

    Version of Record online : 16 APR 2012, DOI: 10.1002/humu.22086

  7. External malformations in chick embryos following concomitant administration of methylxanthines and β-adrenomimetic agents: 1. Gross pathologic features

    Teratology

    Volume 28, Issue 2, October 1983, Pages: 257–269, Harold J. Bruyere Jr., John F. Fallon and Enid F. Gilbert

    Version of Record online : 19 MAY 2005, DOI: 10.1002/tera.1420280216

  8. CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation

    Andrologia

    Volume 42, Issue 5, October 2010, Pages: 326–330, L. Foppiani, A. Maffè and F. Forzano

    Version of Record online : 22 SEP 2010, DOI: 10.1111/j.1439-0272.2009.00994.x

  9. Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome

    Pediatric Pulmonology

    Volume 52, Issue 2, February 2017, Pages: E4–E6, Hyung Young Kim, Yoo-Mi Kim and Hee Ju Park

    Version of Record online : 22 NOV 2016, DOI: 10.1002/ppul.23533

  10. Retarded Growth in Association with Gonadal Insufficiency Three Cases of Turner's Syndrome

    Acta Paediatrica

    Volume 43, Issue 4, July 1954, Pages: 311–319, JAKOB ØSTER

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1954.tb04032.x

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    nMAT1, a nuclear-encoded maturase involved in the trans-splicing of nad1 intron 1, is essential for mitochondrial complex I assembly and function

    The Plant Journal

    Volume 71, Issue 3, August 2012, Pages: 413–426, Ido Keren, Liat Tal, Catherine C. des Francs-Small, Wagner L. Araújo, Sofia Shevtsov, Felix Shaya, Alisdair R. Fernie, Ian Small and Oren Ostersetzer-Biran

    Version of Record online : 22 MAY 2012, DOI: 10.1111/j.1365-313X.2012.04998.x

  12. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

    Clinical Genetics

    Volume 81, Issue 3, March 2012, Pages: 234–239, S Pauli, N von Velsen, P Burfeind, M Steckel, J Mänz, A Buchholz, W Borozdin and J Kohlhase

    Version of Record online : 27 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01701.x

  13. You have free access to this content
    Behavioral features of CHARGE syndrome (Hall–Hittner syndrome) comparison with Down syndrome, Prader–Willi syndrome, and Williams syndrome

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 3, 15 March 2005, Pages: 240–247, John M. Graham Jr, Beth Rosner, Elisabeth Dykens and Jeannie Visootsak

    Version of Record online : 6 JAN 2005, DOI: 10.1002/ajmg.a.30543

  14. Microbial growth by a net heat up-take: A calorimetric and thermodynamic study on acetotrophic methanogenesis by Methanosarcina barkeri

    Biotechnology and Bioengineering

    Volume 75, Issue 2, 20 October 2001, Pages: 170–180, J.-S. Liu, I. W. Marison and U. von Stockar

    Version of Record online : 20 AUG 2001, DOI: 10.1002/bit.1176

  15. The spectrum of clinical features in CHARGE syndrome

    Clinical Genetics

    Volume 29, Issue 4, April 1986, Pages: 298–310, Sandra L. H. Davenport, Margaret A. Hefner and Joyce A. Mitchell

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1986.tb01258.x

  16. Growth in a Series of Diabetic Children on Identical Treatment with “Free” Diet and Insulin 1944–1960: A Contribution to the Aetiology of Diabetic Dwarfism

    Acta Paediatrica

    Volume 51, Issue S135, June 1962, Pages: 72–82, BERTIL HAMNE

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1962.tb08660.x

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    CHD7 gene and non-syndromic cleft lip and palate

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2110–2114, Têmis M. Félix, Benjamin C. Hanshaw, Robert Mueller, Pierre Bitoun and Jeffrey C. Murray

    Version of Record online : 8 JUN 2006, DOI: 10.1002/ajmg.a.31308

  18. Ophthalmic features of CHARGE syndrome with CHD7 mutations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 514–518, Sachiko Nishina, Rika Kosaki, Tatsuhiko Yagihashi, Noriyuki Azuma, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Kenji Kurosawa, Takahiro Yamane, Seiji Mizuno, Kinichi Tsuzuki and Kenjiro Kosaki

    Version of Record online : 2 FEB 2012, DOI: 10.1002/ajmg.a.34400

  19. CHARGE syndrome: Relations between behavioral characteristics and medical conditions

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 8, 15 April 2006, Pages: 851–862, Mathijs P.J. Vervloed, Marella A.A. Hoevenaars-van den Boom, Harry Knoors, Conny M.A. van Ravenswaaij and Ronald J.C. Admiraal

    Version of Record online : 10 MAR 2006, DOI: 10.1002/ajmg.a.31193

  20. Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3042–3051, Lucia Santoro, Anna Ficcadenti, Federica Zallocco, Giada Del Baldo, Francesca Piraccini, Rosaria Gesuita, Patrizia Ceccarani and Orazio Gabrielli

    Version of Record online : 24 SEP 2014, DOI: 10.1002/ajmg.a.36758