نتائج البحث - Mark J. Stephan

  • يعرض 1 - 6 نتائج من 6
تنقيح النتائج
  1. 1
    Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

    Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene حسب Z. Szabó, Marc Crepeau, Alex Mitchell, Mark J. Stephan, Robert Puntel, Kah Yin Loke, Richard Kirk, Zsolt Urbán

    منشور في 2005
    احصل على النص الكامل
    Carta
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

    Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1 حسب Aaron Hamvas, Robin R. Deterding, Susan E. Wert, Frances V. White, Megan K. Dishop, Danielle N. Alfano, Ann C. Halbower, Benjamin C Planer, Mark J. Stephan, Derek A. Uchida, Lee D. Williames, Jill A. Rosenfeld, Robert Roger Lebel, Lisa R. Young, F. Sessions Cole, Lawrence M. Nogee

    منشور في 2013
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy حسب Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel, Karen W. Gripp, Laura Baker, Mark J. Stephan, François Bernier, Kym M. Boycott, Jacek Majewski, Jillian S. Parboosingh, A. Micheil Innes, Dan Doherty

    منشور في 2014
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

    Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia حسب Jennifer E. Below, Dawn Earl, Kathryn M. Shively, Margaret J. McMillin, Joshua D. Smith, Emily H. Turner, Mark J. Stephan, L.I. Al-Gazali, Jozef Hertecant, David Chitayat, Sheila Unger, Daniel H. Cohn, Deborah Krakow, James M. Swanson, Elaine M. Faustman, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    منشور في 2012
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    Cohesin complex-associated holoprosencephaly

    Cohesin complex-associated holoprosencephaly حسب Paul Kruszka, Seth Berger, Valentina Casà, Mike R. Dekker, Jenna Gaesser, Karin Weiss, Ariel F. Martinez, David R. Murdock, Raymond J. Louie, Eloise J. Prijoles, Angie Lichty, Oebele F. Brouwer, Evelien Zonneveld‐Huijssoon, Mark J. Stephan, Jacob S. Hogue, Ping Hu, Momoko Tanima-Nagai, Joshua L. Everson, Chitra Prasad, Anna Cereda, Maria Iascone, Allison Schreiber, Vickie Zurcher, Nicole Corsten‐Janssen, Luis Escobar, Nancy J. Clegg, Mauricio R. Delgado, Omkar Hajirnis, Meena Balasubramanian, Hülya Kayserili, Matthew A. Deardorff, Raymond A. Poot, Kerstin S. Wendt, Robert J. Lipinski, Maximilian Muenke

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations حسب Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    منشور في 2010
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: