תוצאות חיפוש מחבר :: APM

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Aging promotes accumulation of senescent and multiciliated cells in human endometrial epithelium מאת Marina Loid, Darina Obukhova, Keiu Kask, Apostol Apostolov, Alvin Meltsov, Demis Tserpelis, Arthur van den Wijngaard, Signe Altmäe, Galina Yahubyan, Vesselin Baev, Merli Saare, Maire Peters, Ave Minajeva, Priit Adler, Ganesh Acharya, Kaarel Krjutškov, Maria Nikolova, Felipe Vilella, Carlos Simón, Masoud Zamani Esteki, Andres Salumets

יצא לאור 2024

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Artigo

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Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium מאת Mara Colombo, Marinus J. Blok, Phillip J Whiley, Marta Santamariña, Sara Gutiérrez‐Enríquez, Atocha Romero, Pilar Garré, Alexandra Becker, Lindsay Smith, Giovanna De Vecchi, Rita D. Brandão, Demis Tserpelis, Melissa A. Brown, Ana Blanco, Sandra Bonache, Mireia Menéndez, Claude Houdayer, Claudia Foglia, James D. Fackenthal, Diana Baralle, Barbara Wappenschmidt, Eduardo Díaz‐Rubio, Trinidad Caldés, Logan C. Walker, Orland Dı́ez, Ana Vega, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

יצא לאור 2014

קבל טקסט מלא קבל טקסט מלא
Artigo

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3

MLL2 mutation spectrum in 45 patients with Kabuki syndrome מאת Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric Smeets, Annemieke Wagemans, Jaap J.P. Schrander, Marie-José H. van den Boogaard, Jasper van der Smagt, Arie van Haeringen, Irene Stolte‐Dijkstra, Wilhelmina S. Kerstjens‐Frederikse, Grazia M.S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de Ravel, Jean‐Pierre Fryns, Hubert Smeets, Koenraad Devriendt, C. T. R. M. Schrander‐Stumpel

יצא לאור 2010

קבל טקסט מלא
Artigo

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4

Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples מאת James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang, Gorka Ruíz de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha Ayoub, Kumar Lal, Olufunmilayo I. Olopade, Ana Vega, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C. Walker, Irene López‐Perolio, Mads Thomassen, Michael T. Parsons, Phillip J Whiley, Marinus J. Blok, Rita D. Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez‐Enríquez, Orland Dı́ez, Conxi Lázaro, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

יצא לאור 2016

קבל טקסט מלא
Artigo

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5

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing מאת Phillip J Whiley, Miguel de la Hoya, Mads Thomassen, Alexandra Becker, Rita D. Brandão, Inge Søkilde Pedersen, Marco Montagna, Mireia Menéndez, Francisco Quiles, Sara Gutiérrez‐Enríquez, Kim De Leeneer, Anna Tenés, Gemma Montalban, Demis Tserpelis, Toshio F. Yoshimatsu, Carole Tirapo, Michela Raponi, Trinidad Caldés, Ana Blanco, Marta Santamariña, Lucia Guidugli, Gorka Ruíz de Garibay, Ming Wong, Mariella Tancredi, Laura Fachal, Yuan Chun Ding, Torben A. Kruse, Vanessa Lattimore, Ava Kwong, Tsun Leung Chan, Mara Colombo, Giovanni De Vecchi, Maria A. Caligo, Diana Baralle, Conxi Lázaro, Fergus J. Couch, Paolo Radice, Melissa C. Southey, Susan L. Neuhausen, Claude Houdayer, Jim Fackenthal, Thomas van Overeem Hansen, Ana Vega, Orland Dı́ez, Rien Blok, Kathleen Claes, Barbara Wappenschmidt, Logan C. Walker, Amanda B. Spurdle, Melissa A. Brown

יצא לאור 2013

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Artigo

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