Torthaí cuardaigh - Małgorzata Krajewska‐Walasek

  • 1 - 15 toradh as 15 á dtaispeáint
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  1. 1
    High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions

    High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions de réir Alessandra Baumer, Fabrizio Dutly, Damina Balmer, Mariluce Riegel, Turgut Tükel, Małgorzata Krajewska‐Walasek, Albert Schinzel

    Foilsithe / Cruthaithe 1998
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  2. 2
    Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

    Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations de réir Raymonda Varon, E Seemanová, Krystyńa Chrzańowska, Oleg Hnateyko, Dorota Piekutowska‐Abramczuk, Małgorzata Krajewska‐Walasek, Jolanta Sykut‐Cegielska, Karl Sperling, André Reis

    Foilsithe / Cruthaithe 2000
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  3. 3
    Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

    Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes de réir Deborah Bartholdi, Małgorzata Krajewska‐Walasek, Katrin Õunap, H. Gaspar, Krystyńa Chrzańowska, H Ilyana, Hülya Kayserili, Iosif W. Lurie, Albert Schinzel, Alessandra Baumer

    Foilsithe / Cruthaithe 2008
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  4. 4
    Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (<i>THRA</i>)

    Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (<i>THRA</i>) de réir Anna Tylki‐Szymańska, Rocío Acuña‐Hidalgo, Małgorzata Krajewska‐Walasek, Agnieszka Lecka-Ambroziak, Marloes Steehouwer, Christian Gilissen, Han G. Brunner, Agnieszka Jurecka, Agnieszka Różdżyńska‐Świątkowska, Alexander Hoischen, Krystyńa Chrzańowska

    Foilsithe / Cruthaithe 2015
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  5. 5
    Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

    Imprinting-Mutation Mechanisms in Prader-Willi Syndrome de réir Tohru Ohta, Todd A. Gray, Peter K. Rogan, Karin Buiting, James M. Gabriel, Shinji Saitoh, Bethi Muralidhar, B. Bilienska, Małgorzata Krajewska‐Walasek, Daniel J. Driscoll, Bernhard Horsthemke, Merlin G. Butler, Robert D. Nicholls

    Foilsithe / Cruthaithe 1999
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  6. 6
    New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

    New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre de réir Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara, Joanna Trubicka, Dariusz Rokicki, Agnieszka Karkucińska‐Więckowska, Magdalena Pajdowska, Elżbieta Jurkiewicz, Paulina Halat, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Piotr Stawiński, Maciej Pronicki, Małgorzata Krajewska‐Walasek, Rafał Płoski

    Foilsithe / Cruthaithe 2016
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  7. 7
    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome de réir Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyńa Chrzańowska, Małgorzata Krajewska‐Walasek, Anna Rajab, Roberto Giugliani, Thomas Neumann, Katja‐Martina Eckl, Mohsen Karbasiyan, André Reis, Denise Horn

    Foilsithe / Cruthaithe 2004
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  8. 8
    Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

    Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation de réir Monika Hartig, Arcangela Iuso, Tobias B. Haack, Tomasz Kmieć, Elżbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Małgorzata Krajewska‐Walasek, Sergiusz Jóźwiak, Maja Hempel, Juliane Winkelmann, Matthias Elstner, Konrad Oexle, Thomas Klopstock, Wolfgang Mueller‐Felber, Thomas Gasser, Claudia Trenkwalder, Valeria Tiranti, Hans A. Kretzschmar, Gerd Schmitz, Tim M. Strom, Thomas Meitinger, Holger Prokisch

    Foilsithe / Cruthaithe 2011
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  9. 9
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome de réir Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    Foilsithe / Cruthaithe 2011
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  10. 10
    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling de réir Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria Lombardi, Jet Bliek, Eamonn R. Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzalès, Karen Grønskov, Zeynep Tümer, David Monk, M. Mannens, Krystyńa Chrzańowska, Malgorzata Krajewska Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E. Moore, Deborah Mackay, I. Karen Temple, Gabriele Gillessen‐Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth M. Algar, Pablo Lapunzina

    Foilsithe / Cruthaithe 2015
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  11. 11
    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement de réir Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert J. Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Małgorzata Krajewska‐Walasek, Christian P. Kratz, E J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton‐Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. M. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah Mackay, Andrea Riccio, Eamonn R. Maher

    Foilsithe / Cruthaithe 2018
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  12. 12
    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling de réir Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik

    Foilsithe / Cruthaithe 2013
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  13. 13
    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients de réir Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil

    Foilsithe / Cruthaithe 2013
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  14. 14
    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP de réir Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, R. Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bézieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar

    Foilsithe / Cruthaithe 2018
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  15. 15
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome de réir Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Foilsithe / Cruthaithe 2018
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