Výsledky vyhledávání - Joan Z. Balog

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  1. 1
    Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

    Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia Autor Benjamin D. Solomon, Daniel Pineda‐Alvarez, Joan Z. Balog, Donald W. Hadley, Andrea Gropman, R. Nandagopal, Joan C. Han, Jin S. Hahn, Delphine Blain, Brian P. Brooks, Maximilian Muenke

    Vydáno 2009
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  2. 2
    The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

    The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1 Autor Ruth M. Liberfarb, Howard P. Levy, Peter S. Rose, Douglas J. Wilkin, Joie Davis, Joan Z. Balog, Andrew J. Griffith, Yvonne M. Szymko-Bennett, Jennifer J. Johnston, Clair A. Francomano

    Vydáno 2003
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  3. 3
    Latent Class Subtyping of Attention-Deficit/Hyperactivity Disorder and Comorbid Conditions

    Latent Class Subtyping of Attention-Deficit/Hyperactivity Disorder and Comorbid Conditions Autor Maria T. Acosta, F. Xavier Castellanos, Kelly L. Bolton, Joan Z. Balog, P. Eagen, Linda E. Nee, Janet Jones, Luis Palacio, Christopher S. Sarampote, Heather F. Russell, Kate Berg, Mauricio Arcos‐Burgos, Maximilian Muenke

    Vydáno 2008
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  4. 4
    DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics Autor Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri V. Sergeev, Monika B. Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog, Marjan Huizing, Rachel Hart, Wadih M. Zein, William A. Gahl, Brian P. Brooks, David R. Adams

    Vydáno 2013
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  5. 5
    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals Autor B. D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth N. Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lore Wehner, Ute Hehr, Swarna Bale, A. Paulussen, Hubert J.M. Smeets, Emily Hardisty, Anna Tylki‐Szymańska, Ewa Pronicka, Marcell Clemens, Elizabeth McPherson, Raoul C. M. Hennekam, Jin S. Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Can Schell-Apacik, Carol W. Booth, R. L. Thomas, Sue Kenwrick, Derek A. T. Cummings, Sophia M. Bous, Amelia A. Keaton, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Rui Long, Jorge I. Vélez, Daniel Pineda‐Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke

    Vydáno 2009
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  6. 6
    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i>

    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> Autor Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke

    Vydáno 2012
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  7. 7
    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function Autor Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler, Kênia Balbi El-Jaick, Sabina Domené, Jorge I. Vélez, Nan Zhou, Donald W. Hadley, Joan Z. Balog, R Long, Alan Fryer, Wendy E. Smith, SA Omar, Scott D. McLean, Katie Clarkson, Angie Lichty, Nancy J. Clegg, Mauricio R. Delgado, Eric Levey, Elaine Stashinko, Lorraine Potocki, Margot I VanAllen, Jill Clayton‐Smith, Dian Donnai, Diana W. Bianchi, Pétur Benedikt Júlíusson, Pål R. Njølstad, Han G. Brunner, John C. Carey, Ute Hehr, Jörg Müsebeck, Peter Wieacker, A Postra, Raoul C. M. Hennekam, M-J H van den Boogaard, Arie van Haeringen, Aimée Paulussen, J. Herbergs, Connie Schrander‐Stumpel, Andreas Janecke, David Chitayat, Jin S. Hahn, Donna M. McDonald‐McGinn, Elaine H. Zackai, William B. Dobyns, Maximilian Muenke

    Vydáno 2009
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