תוצאות חיפוש - Beata Nowakowska

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  1. 1
    Clinical interpretation of copy number variants in the human genome

    Clinical interpretation of copy number variants in the human genome מאת Beata Nowakowska

    יצא לאור 2017
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    Revisão
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  2. 2
    Genetics and epigenetics of autism spectrum disorder—current evidence in the field

    Genetics and epigenetics of autism spectrum disorder—current evidence in the field מאת Barbara Wiśniowiecka‐Kowalnik, Beata Nowakowska

    יצא לאור 2019
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  3. 3
    The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS

    The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Ce... מאת Beata Grygalewicz, Renata Woroniecka, Grzegorz Rymkiewicz, Jolanta Rygier, Klaudia Borkowska, Aleksandra Kotyl, Katarzyna Błachnio, Zbigniew Bystydzieński, Beata Nowakowska, Barbara Pieńkowska‐Grela

    יצא לאור 2017
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    Artigo
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  4. 4
    Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

    Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH מאת Anne Chun-Hui Tsai, Cherilyn J Dossett, Carol S. Walton, Andrea E Cramer, Patti A Eng, Beata Nowakowska, Amber N. Pursley, Paweł Stankiewicz, Joanna Wiszniewska, Sau Wai Cheung

    יצא לאור 2010
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    Artigo
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  5. 5
    The impact of non-HLA antibodies directed against endothelin-1 type A receptors (ETAR) on early renal transplant outcomes

    The impact of non-HLA antibodies directed against endothelin-1 type A receptors (ETAR) on early renal transplant outcomes מאת Mirosław Banasik, Maria Boratyńska, Katarzyna Kościelska−Kasprzak, Magdalena Krajewska, Oktawia Mazanowska, Dorota Kamińska, Dorota Bartoszek, Marcelina Żabińska, Marta Myszka, Beata Nowakowska, Agnieszka Hałoń, Tomasz Dawiskiba, P. Chudoba, Marian Klinger

    יצא לאור 2013
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    Artigo
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  6. 6
    Identification of critical regions for clinical features of distal 10q deletion syndrome

    Identification of critical regions for clinical features of distal 10q deletion syndrome מאת S A Yatsenko, M.D. and Colin M. Roberts Michael C. Kruer, PI Bader, D Corzo, Jane L. Schuette, CE Keegan, Beata Nowakowska, Sandra Peacock, WW Cai, DA Peiffer, KL Gunderson, Zhishuo Ou, AC Chinault, SW Cheung

    יצא לאור 2009
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    Artigo
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  7. 7
    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i>

    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i> מאת Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska‐Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Patel, Daryl A. Scott, Sau Wai Cheung, Timothy P. Bohan, Paweł Stankiewicz

    יצא לאור 2010
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    Artigo
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  8. 8
    Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

    Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS מאת Donna M. McDonald‐McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata Nowakowska, Joshua A. Suhl, Alice Bailey, Elisabeth E. Mlynarski, David R. Lynch, Albert C. Yan, Larissa T. Bilaniuk, Kathleen E. Sullivan, Stephen T. Warren, Beverly S. Emanuel, Joris Vermeesch, Elaine H. Zackai, Loydie A. Jerome‐Majewska

    יצא לאור 2012
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    Artigo
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  9. 9
    Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

    Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions מאת Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, T. Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto García‐Miñaúr, M. Cristina Digilio, Bruno Marino, Beverly G. Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald‐McGinn

    יצא לאור 2023
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    Revisão
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  10. 10
    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies מאת Beata Nowakowska, Nicole de Leeuw, Claudia AL Ruivenkamp, Birgit Sikkema‐Raddatz, John A. Crolla, Ronald Thoelen, Marion Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie Van Der Kevie-Kersemaekers, Rolph Pfundt, Hanneke Mieloo, Ton van Essen, Bert B A de Vries, Andrew Green, William Reardon, Jean‐Pierre Fryns, Joris Vermeesch

    יצא לאור 2011
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    Artigo
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  11. 11
    Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach

    Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach מאת Dafni Moschidou, Sayandip Mukherjee, Michael P. Blundell, Katharina Drews, Gemma N. Jones, Hassan Abdulrazzak, Beata Nowakowska, Anju Phoolchund, Kenneth Lay, Thamil Selvee Ramasamy, Mara Cananzi, Daniel Nettersheim, Mark Sullivan, Jennifer M. Frost, Gudrun E. Moore, Joris Vermeesch, Nicholas M. Fisk, Adrian J. Thrasher, Anthony Atala, James Adjaye, Hubert Schorle, Paolo De Coppi, Pascale V. Guillot

    יצא לאור 2012
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    Artigo
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  12. 12
    Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

    Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome מאת Erik Boot, Sólveig Óskarsdóttir, Joanne C. Y. Loo, T. Blaine Crowley, Ani Orchanian‐Cheff, Danielle M. Andrade, Jill M. Arganbright, René M. Castelein, Christine Cserti‐Gazdewich, Steven de Reuver, Ania Fiksinski, Gunilla Klingberg, Anthony E. Lang, Maria R. Mascarenhas, Edward Moss, Beata Nowakowska, Erwin Oechslin, Lisa D. Palmer, Gabriela M. Repetto, Nikolai Gil D. Reyes, Maude Schneider, Candice Silversides, Kathleen E. Sullivan, Ann Swillen, Thérèse van Amelsvoort, Jason Van Batavia, Claudia Vingerhoets, Donna M. McDonald‐McGinn, Anne S. Bassett

    יצא לאור 2023
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    Revisão
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  13. 13
    Detection of clinically relevant exonic copy-number changes by array CGH

    Detection of clinically relevant exonic copy-number changes by array CGH מאת Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata Nowakowska, Daniela del Gaudio, Zhilian Xia, Gayle Simpson-Patel, LaDonna Immken, James B. Gibson, Anne Tsai, Jennifer A. Bowers, Tyler Reimschisel, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Tomasz Gambin, Maciej Sykulski, Magdalena Bartnik, Katarzyna Derwińska, Barbara Wiśniowiecka‐Kowalnik, Seema R. Lalani, Frank J. Probst, Weimin Bi, Arthur L. Beaudet, Ankita Patel, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz

    יצא לאור 2010
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    Artigo
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  14. 14
    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities מאת Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L. Kang, Amber N. Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine A. Weaver, Elizabeth Roeder, Theresa A. Grebe, Georgianne L. Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W. Innis, Ewa Obersztyn, Beata Nowakowska, Sally Rosengren, Patricia I. Bader, Dorothy K. Grange, Sayed Naqvi, Adolfo D. Garnica, Saunder Bernes, Chin-To Fong, Anne Summers, William D. Walters, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Ankita Patel

    יצא לאור 2008
    קבל טקסט מלא
    Artigo
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  15. 15
    Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

    Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome מאת Sólveig Óskarsdóttir, Erik Boot, T. Blaine Crowley, Joanne C. Y. Loo, Jill M. Arganbright, Marco Armando, Adriane L. Baylis, Elemi Breetvelt, René M. Castelein, Madeline Chadehumbe, Christopher M. Cielo︎, Steven de Reuver, Stéphan Eliez, Ania Fiksinski, Brian J. Forbes, Emily R. Gallagher, Sarah Hopkins, Oksana A. Jackson, Lorraine Levitz-Katz, Gunilla Klingberg, Michele P. Lambert, Bruno Marino, Maria R. Mascarenhas, Julie S. Moldenhauer, Edward Moss, Beata Nowakowska, Ani Orchanian‐Cheff, Carolina Putotto, Gabriela M. Repetto, Erica Schindewolf, Maude Schneider, Cynthia Solot, Kathleen E. Sullivan, Ann Swillen, Marta Unolt, Jason Van Batavia, Claudia Vingerhoets, Jacob Vorstman, Anne S. Bassett, Donna M. McDonald‐McGinn

    יצא לאור 2023
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    Revisão
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