نتائج البحث - Raymond C. Tervo

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  1. 1
    Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

    Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes حسب Jill A. Rosenfeld, Joanne M. Drautz, Carol L. Clericuzio, Tom Cushing, Salmo Raskin, Judith A. Martin, Raymond C. Tervo, Jose A. Pitarque, Dorota Nowak, Justyna A. Karolak, Allen N. Lamb, Roger A. Schultz, Blake C. Ballif, Bassem A. Bejjani, Marzena Gajęcka, Lisa G. Shaffer

    منشور في 2011
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    Artigo
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  2. 2
    Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

    Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication حسب Blake C. Ballif, Aaron Theisen, Justine Coppinger, Gordon C. Gowans, Joseph H. Hersh, Suneeta Madan‐Khetarpal, Karen Russell Schmidt, Raymond C. Tervo, Luis Escobar, Christopher A. Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E. Ming, Elaine H. Zackai, Bassem A. Bejjani, Lisa G. Shaffer

    منشور في 2008
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    Artigo
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  3. 3
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization حسب Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, Luis Escobar, Dima El‐Khechen, Stephanie E. Vallee, Mary Beth Dinulos, Cynthia J. Curry, Jamie Fisher, Raymond C. Tervo, Mark C. Hannibal, Kiana Siefkas, Philip Wyatt, Lauren S. Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez‐Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif, Lisa G. Shaffer

    منشور في 2013
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  4. 4
    Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Refining analyses of copy number variation identifies specific genes associated with developmental delay حسب Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O’Roak, Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler

    منشور في 2014
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  5. 5
    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes حسب Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns

    منشور في 2013
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