Canlyniadau Chwilio - Concepción Hernández‐Chico

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Mireinio'r Canlyniadau
  1. 1
    Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of<sup>c</sup>BCD541 and SMA Phenotype

    Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of<sup>c</sup>BCD541 and SMA Phenotype gan Eladio A. Velasco, Carmen Valero, Ana Valero, Felipe Moreno, Concepción Hernández-Chico

    Cyhoeddwyd 1996
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  2. 2
    A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

    A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. gan Alejandra Pera, Manuela Villamar, Antonio Viñuela, Marta Gandía, Carme Medá, Felipe Moreno, Concepción Hernández-Chico

    Cyhoeddwyd 2008
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  3. 3
    Functional assessment of allelic variants in the <i>SLC26A4</i> gene involved in Pendred syndrome and nonsyndromic EVA

    Functional assessment of allelic variants in the <i>SLC26A4</i> gene involved in Pendred syndrome and nonsyndromic EVA gan Alejandra Pera, Silvia Dossena, Simona Rodighiero, Marta Gandía, Guido Fernando Botta, G. Meyer, Felipe Moreno, Charity Nofziger, Concepción Hernández-Chico, Markus Paulmichl

    Cyhoeddwyd 2008
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  4. 4
    A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

    A Highly Sensitive Genetic Protocol to Detect NF1 Mutations gan M. Carmen Valero, Yolanda Martín, Elisabete Hernández-Imaz, Alba Hernández, Germán Melean, Ana María Valero, Francisco Javier Álvarez Rodríguez, Dolores Tellerı́a, Concepción Hernández-Chico

    Cyhoeddwyd 2011
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  5. 5
    The c.859G&gt;C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

    The c.859G&gt;C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor gan Sara Bernal, Laura Alías, M. J. Barcelo, Eva Also‐Rallo, Rebeca Martínez‐Hernández, Josep Gámez, Encarna Guillén‐Navarro, Jordi Rosell, I. Hernando, F. J. Rodriguez-Alvarez, Salud Borrego, José M. Millán, Concepción Hernández-Chico, M. Baiget, Pablo Fuentes‐Prior, Eduardo F. Tizzano

    Cyhoeddwyd 2010
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  6. 6
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... gan Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Cyhoeddwyd 2015
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  7. 7
    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 gan Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen

    Cyhoeddwyd 2017
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  8. 8
    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation gan Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary A. Bellus, Lynne M. Bird, Maria Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, M. Cristina Digilio, Shelley K. Dills, Laura Dosa, Robert Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi Jones, Justin T. Jordan, Pekka Kannus, Bruce R. Korf, Andrea M. Lewis, Robert Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie McDonald, Carey McDougall, Nancy J. Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sébastien Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel Pond, Linda M. Randolph, Katherine A. Rauen, Surya P. Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela Trapane, Nicole J. Ullrich, Emily Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine H. Zackai, Kathleen Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Cyhoeddwyd 2018
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  9. 9
    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis... gan Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Uhas, Linlea Armstrong, Katherine A. Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, L. Kate Clarkson, Maurizio Clementi, Fanny Cortés, Mitch Cunningham, Daniela D’Agostino, Martin B. Delatycki, M. Cristina Digilio, Laura Dosa, Silvia Esposito, Stéphanie Fox, Mary‐Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison L. Goetsch, Yael Goldberg, Robert Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepción Hernández‐Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly‐Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley McGregor, Daniela Melis, Nancy J. Mendelsohn, Małgorzata J.M. Nowaczyk, June Ortenberg, Karin Panzer, John Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Enikö K. Pivnick, Dinel Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman‐Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke van den Ende, Samantha A. Schrier Vergano, Stephanie E Wallace, Michael F. Wangler, David D. Weaver, Kaleb Yohay, Elaine H. Zackai, Jonathan Zonana

    Cyhoeddwyd 2019
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