Ohcanbohtosat - María A. Ramos‐Arroyo

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  1. 1
    Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing

    Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing Dahkki María A. Ramos‐Arroyo

    Almmustuhtton 2005
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  2. 2
    Huntington's disease in Venezuela

    Huntington's disease in Venezuela Dahkki Anne B. Young, Ira Shoulson, John B. Penney, Simon Starosta‐Rubinstein, Fidela Gomez, Helen Travers, María A. Ramos-Arroyo, S. Robert Snodgrass, Ernesto Bonilla, Humberto Moreno, Nancy S. Wexler

    Almmustuhtton 1986
    Viečča ollesdeavstta Viečča ollesdeavstta
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  3. 3
    Clinical manifestations of homozygote allele carriers in Huntington disease

    Clinical manifestations of homozygote allele carriers in Huntington disease Dahkki Esther Cubo, Saül Martínez‐Horta, Frederic Sampedro, Asunción Martínez Descalls, Sara Calvo, Cecilia Gil‐Polo, Ignacio Cano Muñoz, Katia Llano, Natividad Mariscal, Dolores Dı́az, Alan Carmona Gutiérrez, Laura Aguado, María A. Ramos-Arroyo

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
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  4. 4
    Huntington's disease in venezuela: 7 years of follow‐up on symptomatic and asymptomatic individuals

    Huntington's disease in venezuela: 7 years of follow‐up on symptomatic and asymptomatic individuals Dahkki John B. Penney, Anne B. Young, Ira Shoulson, Simon Starosta‐Rubenstein, S. Robert Snodgrass, Juan Sanchez‐Ramos, María A. Ramos‐Arroyo, Fidela Gomez, Graciela K. Penchaszadeh, José Alvir, Jesus Esteves, Iris DeQuiroz, Nelson Marsol, Humberto Moreno, P. Michael Conneally, Ernesto Bonilla, Nancy S. Wexler

    Almmustuhtton 1990
    Viečča ollesdeavstta
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  5. 5
    Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

    Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro Dahkki Ana S.A. Cohen, Damian Yap, M. E. Suzanne Lewis, Chieko Chijiwa, María A. Ramos‐Arroyo, Natália Tkachenko, Valentina Milano, Mélanie Fradin, Margaret L. McKinnon, Katelin N. Townsend, Jieqing Xu, M. I. Van Allen, Colin J.D. Ross, William B. Dobyns, David D. Weaver, William T. Gibson

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
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  6. 6
    Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype

    Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype Dahkki Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A. Cumming, Victoria Álvarez, Asunción Martínez‐Descals, Montserrat Milà, María José Trujillo-Tiebas, José Luis López-Sendón, María Fenollar‐Cortés, I. Legarda, Sara Bernal, José M. Millán, Camen Durán-Herrera, Javier Ruiz‐Martínez, Rebeca Ruiz Onandi, Darren G. Monckton, María A. Ramos‐Arroyo

    Almmustuhtton 2024
    Viečča ollesdeavstta
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  7. 7
    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families Dahkki Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse, Julie De Backer, Koenraad Devriendt, Bruno Albrecht, María A. Ramos-Arroyo, M. Doco‐Fenzy, R Hennekam, Reed E. Pyeritz, O.N. Krogmann, Gabrielle Gillessen-Kaesbach, Emma Wakeling, Serena Nik‐Zainal, Christine Francannet, P. Mauran, C. Booth, Margaret Barrow, R. Dekens, Bart Loeys, Paul Coucke, Anne M. De Paepe

    Almmustuhtton 2007
    Viečča ollesdeavstta
    Artigo
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  8. 8
    A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

    A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes Dahkki Julie Sarfati, Anne Guiochon‐Mantel, Philippe Rondard, Isabelle Arnulf, Alfons García-Piñero, Sławomir Wołczyński, Sylvie Brailly‐Tabard, Maud Bidet, María A. Ramos‐Arroyo, Michèle Mathieu, Anne Lienhardt-Roussie, Graeme Morgan, Z. Turki, C Brémont, James Lespinasse, Hélène Du Boullay, Nathalie Chabbert‐Buffet, Sébastien Jacquemont, G. Reach, Nicole De Talence, Paolo Tonella, Bernard Conrad, F Despert, Bruno Delobel, Thierry Brue, Claire Bouvattier, Sylvie Cabrol, Michel Pugeat, Arnaud Murat, Philippe Bouchard, Jean‐Pierre Hardelin, Catherine Dodé, Jacques Young

    Almmustuhtton 2009
    Viečča ollesdeavstta
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  9. 9
    Arterial tortuosity syndrome: 40 new families and literature review

    Arterial tortuosity syndrome: 40 new families and literature review Dahkki Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al‐Essa, Waheed Al-Manea, Damien Bonnet, Özlem Bostan, Odile Boute, Tiffany Busa, N Canham, Ergün Çil, Paul Coucke, Margot A. Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R. Deyle, Harry C. Dietz, Sophie Dupuis‐Girod, Eudice Fontenot, Björn Fischer‐Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Díez, Mohammed Z. Haider, Joshua S. Hardin, Xavier Jeunemaı̂tre, Eric W. Klee, Uwe Kornak, Manuel F. Landecho, Anne Debost‐Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, María A. Ramos‐Arroyo, Massimiliano Rossi, Mustafa A. Salih, Mohammed Zain Seidahmed, Élise Schaefer, Elisabeth Steichen‐Gersdorf, Şehime Gülsün Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R. Collins, Andrea Taylor, Elaine C. Davis, Yuri A. Zárate, Bert Callewaert

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
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  10. 10
    Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study Dahkki Davina J. Hensman Moss, Antonio F. Pardiñas, Douglas R. Langbehn, Kitty Lo, Blair R. Leavitt, Raymund A.C. Roos, Alexandra Dürr, Simon Mead, Peter Holmans, L. Jones, Sarah J. Tabrizi, A. Coleman, R. Dar Santos, Joji Decolongon, Aaron Sturrock, Éric Bardinet, C Jauff Ret, Damián Justo, Stéphane Lehericy, Cécilia Marelli, K Nigaud, Romain Valabrègue, S. van den Bogaard, Eve M. Dumas, Jeroen van der Grond, EP t'Hart, Caroline K. Jurgens, M-N Witjes-Ane, Natalie Arran, Jenny Callaghan, Cheryl Stopford, Chris Frost, Rebecca Jones, Nicola Z. Hobbs, Nayana Lahiri, Roger J. Ordidge, Gail Owen, Tracey Pepple, Joy Read, M Say, Edward J. Wild, Aakta Patel, Nick C. Fox, Clare R. Gibbard, Ian B. Malone, Helen Crawford, D. Whitehead, Stephen Keenan, David M. Cash, C. Berna, N Bechtel, Stefan Bohlen, Alana Man, P Kraus, Eric Axelson, Chen Wang, T Acharya, Sang Lee, W Monaco, Colin Campbell, Sarah Queller, Kathryn B. Whitlock, Colin Campbell, Melissa Campbell, E Frajman, C Milchman, Alison O’Regan, Izelle Labuschagne, Julie C. Stout, G. Bernhard Landwehrmeyer, David Craufurd, Rachael I. Scahill, S. Hicks, Christopher Kennard, Hans J. Johnson, Allan J. Tobin, H. Diana Rosas, Ralf Reilmann, Beth Borowsky, C Pourchot, Sophie C. Andrews, Anne‐Catherine Bachoud‐Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael M. Bonelli, Jean‐Marc Burgunder, Stephen B. Dunnett, Joaquim J. Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, María A. Ramos-Arroyo, Jørgen E. Nielsen, Susana Pro Koivisto, Markku Päivärinta, R. A. C. Roos, Ana Rojo Sebastián, Sarah J. Tabrizi

    Almmustuhtton 2017
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  11. 11
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders Dahkki Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    Almmustuhtton 2022
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