Resultados de búsqueda - Eva Holmberg

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  1. 1
    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome por Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López‐González, Geert Mortier, Sheela Nampoothiri, Michael B. Petersen, Anne De Paepe

    Publicado 2013
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  2. 2
    Phenotype and natural history in Marshall–Smith syndrome

    Phenotype and natural history in Marshall–Smith syndrome por Adam Shaw, Inge D.C. Van Balkom, Mislen Bauer, Trevor Cole, Marie‐Ange Delrue, Arie van Haeringen, Eva Holmberg, Samantha J.L. Knight, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Martin Zenker, Valérie Cormier‐Daire, Raoul C. M. Hennekam

    Publicado 2010
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  3. 3
    Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

    Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland por Laura Sarantaus, Pia Huusko, Hannaleena Eerola, Virpi Launonen, Paula Vehmanen, Katrin Rapakko, Elizabeth M. Gillanders, Kirsi Syrjäkoski, Tommi Kainu, Pia Vahteristo, Ralf Krahe, Kati Pääkkönen, Jaana M. Hartikainen, Carl Blomqvist, Tuija Löppönen, Kaija Holli, Markku Ryynänen, Ralf Bützow, Åke Borg, Brita Arver, Eva Holmberg, Graham J. Mann, Juha Kere, Olli Kallioniemi, Robert Winqvist, Heli Nevanlinna

    Publicado 2000
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  4. 4
    Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

    Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus por Tommi Kainu, Suh‐Hang Hank Juo, Richard Desper, Alejandro A. Schäffer, Elizabeth M. Gillanders, Ester Rozenblum, Diana Freas‐Lutz, Don Weaver, Dietrich A. Stephan, Joan E. Bailey‐Wilson, Olli Kallioniemi, Mika Tirkkonen, Kirsi Syrjäkoski, Tuula Kuukasjärvi, Pasi A. Koivisto, Ritva Karhu, Kaija Holli, Aðalgeir Arason, Guðrún Jóhannesdóttir, Jón Þór Bergþorsson, Hrefna Johannsdottir, Valgarður Egilsson, Rósa B. Barkardóttir, Óskar Þór Jóhannsson, Karin Haraldsson, Therese Sandberg, Eva Holmberg, Henrik Grönberg, Håkan Olsson, Åke Borg, Paula Vehmanen, Hannaleena Eerola, Päivi Heikkilä, Seppo Pyrhönen, Heli Nevanlinna

    Publicado 2000
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  5. 5
    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy por Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Alla S. Kostyukova, Natalia Moroz, Kate G.R. Quinlan, Vilma‐Lotta Lehtokari, Gianina Ravenscroft, Emily J. Todd, Ozge Ceyhan‐Birsoy, David S. Gokhin, Jérôme Maluenda, Monkol Lek, Flora Nolent, Christopher T. Pappas, Stefanie M. Novak, Adele D’Amico, Edoardo Malfatti, Brett Thomas, Stacey Gabriel, Namrata Gupta, Mark J. Daly, Biljana Ilkovski, Peter J. Houweling, Ann E. Davidson, Lindsay C. Swanson, Catherine A. Brownstein, Vandana Gupta, Līvija Medne, Patrick Shannon, Nicole Martin, David Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B. Waddell, Darcée D. Sloboda, Enrico Bertini, David Chitayat, William R. Telfer, Annie Laquerrière, Carol C. Gregorio, Coen A. C. Ottenheijm, Carsten G. Bönnemann, Katarina Pelin, Alan H. Beggs, Yukiko Hayashi, Norma B. Romero, Nigel G. Laing, Ichizo Nishino, Carina Wallgren‐Pettersson, Judith Melki, Velia M. Fowler, Daniel G. MacArthur, Kathryn N. North, Nigel F. Clarke

    Publicado 2014
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  6. 6
    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders por Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Iván K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Donna M. Muzny, Olaug K. Rødningen, Ying Sheng, Sarah K. Nicholas, Lenora M. Noroski, Filiz O. Seeborg, Carla M. Davis, Debra Canter, Emily M. Mace, Timothy J. Vece, Carl E. Allen, Harshal Abhyankar, Philip M. Boone, Christine R. Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E. Tjønnfjord, Tobias Gedde‐Dahl, Henrik Hjorth‐Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv Osnes, Mari Ann Kulseth, Trine Prescott, Cecilie F. Rustad, Ketil Heimdal, John W. Belmont, Nicholas L. Rider, Javier Chinen, Tram N. Cao, Eric A. Smith, María Soledad Caldirola, Liliana Bezrodnik, Saúl Oswaldo Lugo Reyes, Francisco Espinosa‐Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, M. Cecilia Poli, José Luis Franco, Claudia Milena Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan K. Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yeşil, Hasibe Artaç, Yavuz Bayram, Mehmed M. Atik, Mohammad K. Eldomery, Mohammad Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor Wei Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M. Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski

    Publicado 2016
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