Resultats de la cerca - Jacqueline Schoumans

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  1. 1
    Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

    Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) per Jacqueline Schoumans

    Publicat 2005
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  2. 2
    Evolution of Genetic Techniques: Past, Present, and Beyond

    Evolution of Genetic Techniques: Past, Present, and Beyond per Asude Durmaz, Emin Karaca, Urszula Demkow, Gökçe Törüner, Jacqueline Schoumans, Özgür Çoğulu

    Publicat 2015
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  3. 3
    Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the<i>DAX1</i>Gene

    Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the<i>DAX1</i>Gene per Michela Barbaro, Mikael Oscarson, Jacqueline Schoumans, Johan Staaf, Sten A. Ivarsson, Anna Wedell

    Publicat 2007
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  4. 4
    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) per Nicole Maas, Griet Van Buggenhout, Femke Hannes, Bernard Thienpont, Damien Sanlaville, Klaas Kok, Alina T. Midro, Joris Andrieux, B-M Anderlid, Jacqueline Schoumans, Roel Hordijk, Koenraad Devriendt, JP Fryns, Joris Vermeesch

    Publicat 2007
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  5. 5
    Genetic and Expression Profiles of Squamous Cell Carcinoma of the Head and Neck Correlate with Cisplatin Sensitivity and Resistance in Cell Lines and Patients

    Genetic and Expression Profiles of Squamous Cell Carcinoma of the Head and Neck Correlate with Cisplatin Sensitivity and Resistance in Cell Lines and Patients per Jan Åkervall, Xiang Guo, Chao-Nan Qian, Jacqueline Schoumans, Brandon Leeser, Eric J. Kort, Andrew Cole, James H. Resau, Carol R. Bradford, Thomas E. Carey, Johan Wennerberg, Harald Anderson, Jan Tennvall, Bin Tean Teh

    Publicat 2004
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  6. 6
    Guidelines for molecular karyotyping in constitutional genetic diagnosis

    Guidelines for molecular karyotyping in constitutional genetic diagnosis per Joris Vermeesch, Heike Fiegler, Nicole de Leeuw, Károly Szuhai, Jacqueline Schoumans, Roberto Ciccone, Frank Speleman, Anita Rauch, Jill Clayton‐Smith, Conny van Ravenswaaij, Damien Sanlaville, Philippos C. Patsalis, Helen V. Firth, Koenraad Devriendt, Orsetta Zuffardi

    Publicat 2007
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  7. 7
    European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

    European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms per Katrina Rack, Eva van den Berg, Claudia Haferlach, H. Berna Beverloo, Dolors Costa, Blanca Espinet, Natalie J. Foot, Sally Jeffries, Kristy-Jane Martin, Simon O’Connor, Jacqueline Schoumans, P. Talley, Nick Telford, Sabine Stioui, Zuzana Zemanová, Ros Hastings

    Publicat 2019
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  8. 8
    The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas

    The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas per Jindong Chen, Weng‐Onn Lui, Michele D. Vos, Geoffrey Clark, Masayuki Takahashi, Jacqueline Schoumans, Sok Kean Khoo, David Petillo, Todd T. Lavery, Jun Sugimura, Dewi Astuti, Chun Zhang, Susumu Kagawa, Eamonn R. Maher, Catharina Larsson, Arthur S. Alberts, Hiro‐omi Kanayama, Bin Tean Teh

    Publicat 2003
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  9. 9
    Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL)

    Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL) per Anna Puiggros, Sílvia Ramos‐Campoy, Joanna Kamaso, Mireia de la Rosa Estadella, Marta Salido, Carme Melero, María Rodríguez‐Rivera, Sandrine Bougeon, Rosa Collado, Eva Gimeno, Rocío García‐Serra, Sara Alonso, Marco Antonio Moro‐García, María Dolores García‐Malo, Xavier Calvo, Leonor Arenillas, Ana Ferrer, Tuomo Mantere, Alexander Hoischen, Jacqueline Schoumans, Blanca Espinet

    Publicat 2022
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  10. 10
    MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences

    MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences per Alberto L’Abbate, Doron Tolomeo, Ingrid Cifola, Marco Severgnini, Antonella Turchiano, Bartolomeo Augello, Gabriella Maria Squeo, Pietro D’Addabbo, Debora Traversa, Giulia Daniele, Angelo Lonoce, Mariella Pafundi, Massimo Carella, Orazio Palumbo, Anna Dolnik, Dominique Müehlematter, Jacqueline Schoumans, Nadine Van Roy, Gianluca De Bellis, Giovanni Martinelli, Giuseppe Merla, Lars Bullinger, Claudia Haferlach, Clelia Tiziana Storlazzi

    Publicat 2018
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  11. 11
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature per Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Publicat 2013
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  12. 12
    The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language

    The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language per Heidi Anthoni, Lara E. Sucheston, Barbara Lewis, Isabel Tapia‐Páez, Xiaotang Fan, Marco Zucchelli, Mikko Taipale, Catherine M. Stein, Marie-Estelle Hokkanen, Eero Ċastrén, Bruce F. Pennington, Shelley D. Smith, Richard K. Olson, J. Bruce Tomblin, Gerd Schulte‐Körne, Markus M. Nöthen, Johannes Schumacher, Bertram Müller‐Myhsok, Per Hoffmann, Jeffrey W. Gilger, George W. Hynd, Jaana Nopola‐Hemmi, Paavo H. T. Leppänen, Heikki Lyytinen, Jacqueline Schoumans, Magnus Nordenskjöld, Jason Spencer, Davor Stanić, Wah Chin Boon, Evan R. Simpson, Sari Mäkelä, Jan-Ακε Gustafsson, Myriam Peyrard‐Janvid, Sudha K. Iyengar, Juha Kere

    Publicat 2012
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  13. 13
    Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study

    Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study per Alexander C. Leeksma, Panagiotis Baliakas, Theodoros Moysiadis, Anna Puiggros, Karla Plevová, Anne-Marie Van der Kevie-Kersemaekers, Hidde L. A. Posthuma, Ana E. Rodríguez‐Vicente, Anh Nhi Tran, Gisela Barbany, Larry Mansouri, Rebeqa Gunnarsson, Helen Parker, Eva van den Berg, Mar Bellido, Zadie Davis, Meaghan Wall, Ilaria Scarpelli, Anders Österborg, Lotta Hansson, Marie Jarošová, Paolo Ghia, Pino J. Poddighe, Blanca Espinet, Šárka Pospı́šilová, Constantine S. Tam, Loïc Ysebaert, Florence Nguyen‐Khac, David Oscier, Claudia Haferlach, Jacqueline Schoumans, Marian Stevens‐Kroef, Eric Eldering, Κώστας Σταματόπουλος, Richard Rosenquist, Jonathan C. Strefford, Clemens Mellink, Arnon P. Kater

    Publicat 2020
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