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There are 14884 results for: content related to: Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

  1. Mutational spectrum of Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 263–284, Hans R. Waterham and Raoul C.M. Hennekam

    Article first published online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31346

  2. Meier-Gorlin syndrome: Report of eight additional cases and review

    American Journal of Medical Genetics

    Volume 102, Issue 2, 1 August 2001, Pages: 115–124, Ernie M.H.F. Bongers, John M. Opitz, Alan Fryer, Pierre Sarda, Raoul C.M. Hennekam, Brian D. Hall, Duane W. Superneau, Madeline Harbison, Alexis Poss, Hans van Bokhoven, Ben C.J. Hamel and Nine V.A.M. Knoers

    Article first published online : 18 JUL 2001, DOI: 10.1002/ajmg.1452

  3. You have free access to this content
    Mutation update for the PORCN gene

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 723–728, Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A.M.M. Mannens, Robert Smigiel and Raoul C. Hennekam

    Article first published online : 21 JUN 2011, DOI: 10.1002/humu.21505

  4. AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

    Journal of Cellular Physiology

    Volume 217, Issue 3, December 2008, Pages: 605–617, Elias Spanakis, Edrice Milord and Claudia Gragnoli

    Article first published online : 22 AUG 2008, DOI: 10.1002/jcp.21552

  5. Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain

    Clinical Endocrinology

    Volume 67, Issue 4, October 2007, Pages: 538–546, Itziar Estalella, Itxaso Rica, Guiomar Perez De Nanclares, Jose Ramon Bilbao, Jose Antonio Vazquez, Jose Ignacio San Pedro, Maria Angeles Busturia, Luis Castaño and Spanish MODY Group

    Article first published online : 24 MAY 2007, DOI: 10.1111/j.1365-2265.2007.02921.x

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    Meier-Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 339–341, Eissa Faqeih, Nadia Sakati and Ahmad S. Teebi

    Article first published online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30899

  7. Hedgehog signaling update

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 1875–1914, M. Michael Cohen Jr.

    Article first published online : 15 JUL 2010, DOI: 10.1002/ajmg.a.32909

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    Haemophilia A mutations in the UK: results of screening one-third of the population

    British Journal of Haematology

    Volume 143, Issue 1, October 2008, Pages: 115–128, P. M. Green, R. D. Bagnall, N. H. Waseem and F. Giannelli

    Article first published online : 7 AUG 2008, DOI: 10.1111/j.1365-2141.2008.07310.x

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    Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 67, Issue 10, October 2003, Pages: 825–836, Jeanne M. Manson and Michael C. Carr

    Article first published online : 8 OCT 2003, DOI: 10.1002/bdra.10084

  10. You have full text access to this OnlineOpen article
    The Fibroblast Growth Factor signaling pathway

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 3, May/June 2015, Pages: 215–266, David M. Ornitz and Nobuyuki Itoh

    Article first published online : 13 MAR 2015, DOI: 10.1002/wdev.176

  11. Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A

    Haemophilia

    Volume 18, Issue 3, May 2012, Pages: e331–e339, N. LANNOY, I. ABINET, A. BOSMANS, C. LAMBERT, C. VERMYLEN and C. HERMANS

    Article first published online : 26 AUG 2011, DOI: 10.1111/j.1365-2516.2011.02640.x

  12. Low-grade serous carcinomas of the ovary contain very few point mutations

    The Journal of Pathology

    Volume 226, Issue 3, February 2012, Pages: 413–420, Siân Jones, Tian-Li Wang, Robert J Kurman, Kentaro Nakayama, Victor E Velculescu, Bert Vogelstein, Kenneth W Kinzler, Nickolas Papadopoulos and Ie-Ming Shih

    Article first published online : 20 DEC 2011, DOI: 10.1002/path.3967

  13. Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China

    Clinical Endocrinology

    Volume 83, Issue 4, October 2015, Pages: 518–526, Jing Cheng, Ruizhu Lin, Wen Zhang, Guochang Liu, Huiying Sheng, Xiuzhen Li, Zhihong Zhou, Xiaojian Mao and Li Liu

    Article first published online : 7 MAY 2015, DOI: 10.1111/cen.12799

  14. Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2533–2540, Maxim Balasov, Katarina Akhmetova and Igor Chesnokov

    Article first published online : 2 JUL 2015, DOI: 10.1002/ajmg.a.37214

  15. Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)

    International Journal of Dermatology

    Volume 50, Issue 3, March 2011, Pages: 375–378, Yingying Dong, Shengxiang Xiao, Jianwen Ren, Jia Huo, Bingjun Shi, Jiawen Wu, Jingang An and Junhong Ma

    Article first published online : 15 APR 2010, DOI: 10.1111/j.1365-4632.2009.04346.x

  16. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

    American Journal of Medical Genetics

    Volume 106, Issue 4, Winter 2001, Pages: 244–250, Sheila Unger and Jacqueline T. Hecht

    Article first published online : 25 JAN 2002, DOI: 10.1002/ajmg.10234

  17. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1113–1127, Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven B. Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca Rodríguez Viales and Ekkehard Grünig

    Article first published online : 12 OCT 2015, DOI: 10.1002/humu.22904

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    Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)

    Journal of Thrombosis and Haemostasis

    Volume 6, Issue 5, May 2008, Pages: 762–771, U. BUDDE, R. SCHNEPPENHEIM, J. EIKENBOOM, A. GOODEVE, K. WILL, E. DREWKE, G. CASTAMAN, F. RODEGHIERO, A. B. FEDERICI, J. BATLLE, A. PÉREZ, D. MEYER, C. MAZURIER, J. GOUDEMAND, J. INGERSLEV, D. HABART, Z. VORLOVA, L. HOLMBERG, S. LETHAGEN, J. PASI, F. HILL and I. PEAKE

    Article first published online : 1 MAR 2008, DOI: 10.1111/j.1538-7836.2008.02945.x

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    Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

    British Journal of Haematology

    Volume 160, Issue 6, March 2013, Pages: 825–837, Zachary A. Hing, Tal Schiller, Andrew Wu, Nobuko Hamasaki-Katagiri, Evi Budo Struble, Estelle Russek-Cohen and Chava Kimchi-Sarfaty

    Article first published online : 24 JAN 2013, DOI: 10.1111/bjh.12214

  20. Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

    Human Mutation

    Volume 36, Issue 6, June 2015, Pages: 611–621, Patricie Burda, Alexandra Schäfer, Terttu Suormala, Till Rummel, Céline Bürer, Dorothea Heuberger, Michele Frapolli, Cecilia Giunta, Jitka Sokolová, Hana Vlášková, Viktor Kožich, Hans Georg Koch, Brian Fowler, D. Sean Froese and Matthias R. Baumgartner

    Article first published online : 27 APR 2015, DOI: 10.1002/humu.22779