Søgeresultater - Magdalena Walkiewicz

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  1. 1
    Increased Insulin/Insulin Growth Factor Signaling Advances the Onset of Metamorphosis in Drosophila

    Increased Insulin/Insulin Growth Factor Signaling Advances the Onset of Metamorphosis in Drosophila af Magdalena Walkiewicz, Michael Stern

    Udgivet 2009
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  2. 2
    Ras Activity in the Drosophila Prothoracic Gland Regulates Body Size and Developmental Rate via Ecdysone Release

    Ras Activity in the Drosophila Prothoracic Gland Regulates Body Size and Developmental Rate via Ecdysone Release af Philip E. Caldwell, Magdalena Walkiewicz, Michael Stern

    Udgivet 2005
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  3. 3
    Merkel cell carcinoma in a patient with Birt-Hogg-Dubé syndrome

    Merkel cell carcinoma in a patient with Birt-Hogg-Dubé syndrome af Danielle Reed, Yoshine Saito, Jasmine C Meltzer, Monica E. Taylor, Whitney A. High, Jia Yan, Michael Setzer, Rajarshi Ghosh, Magdalena Walkiewicz, Justin Lack, Lingling Miao, Isaac Brownell

    Udgivet 2025
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  4. 4
    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene af Lindsay C. Burrage, Sha Tang, Jing Wang, Taraka Donti, Magdalena Walkiewicz, James M. Luchak, Li-Chieh Chen, Eric Schmitt, Zhiyv Niu, Rodrigo Eraña, Jill V. Hunter, Brett H. Graham, Lee-Jun Wong, Fernando Scaglia

    Udgivet 2014
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  5. 5
    Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years

    Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years af Andrea Lisco, Ana M Ortega-Villa, Harry Mystakelis, Megan Anderson, Allyson Mateja, Elizabeth Laidlaw, Maura Manion, Gregg Roby, Jeanette Higgins, Safia Kuriakose, Magdalena Walkiewicz, Morgan Similuk, Jennifer W. Leiding, Alexandra F. Freeman, Virginia Sheikh, Irini Sereti

    Udgivet 2023
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  6. 6
    Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency

    Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency af Hannah Kinoshita, Jessica Durkee-Shock, Mariah Jensen-Wachspress, Vaishnavi V. Kankate, Haili Lang, Christopher A. Lazarski, Anjeni Keswani, Kathleen Webber, Kimberly Montgomery-Recht, Magdalena Walkiewicz, Luigi D. Notarangelo, Peter D. Burbelo, Ivan J. Fuss, Jeffrey I. Cohen, Catherine M. Bollard, Michael D. Keller

    Udgivet 2021
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  7. 7
    Topical Steroid Withdrawal Is a Targetable Excess of Mitochondrial NAD+

    Topical Steroid Withdrawal Is a Targetable Excess of Mitochondrial NAD+ af Nadia Shobnam, Grace Ratley, Sarini Saksena, Manoj Yadav, Prem Prashant Chaudhary, Ashleigh A. Sun, Katherine Howe, Manasi Gadkari, Luis M. Franco, Sundar Ganesan, Katelyn McCann, Amy P. Hsu, Kishore Kanakabandi, Stacy Ricklefs, Justin Lack, Weiming Yu, Morgan Similuk, Magdalena Walkiewicz, Donna Gardner, Kelly Barta, Kathryn Tullos, Ian A. Myles

    Udgivet 2025
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  8. 8
    Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

    Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations af Xia Wang, Wu‐Lin Charng, Chun‐An Chen, Jill A. Rosenfeld, Aisha Al Shamsi, Lihadh Al‐Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L. Arnold, Chunjing Qu, Yan Ding, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Sharon E. Plon, James R. Lupski, Christian P. Schaaf, Yaping Yang

    Udgivet 2017
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  9. 9
    Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

    Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation af Jennifer E. Posey, Tamar Harel, Pengfei Liu, Jill A. Rosenfeld, Regis A. James, Zeynep H. Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding, Fan Xia, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Eric Boerwinkle, Christine M. Eng, V. Reid Sutton, Chad A. Shaw, Sharon E. Plon, Yaping Yang, James R. Lupski

    Udgivet 2016
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  10. 10
    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder af Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

    Udgivet 2018
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  11. 11
    Molecular diagnostic experience of whole-exome sequencing in adult patients

    Molecular diagnostic experience of whole-exome sequencing in adult patients af Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Matthew N. Bainbridge, Zhiyv Niu, Xia Wang, Shweta U. Dhar, Wojciech Wiszniewski, Zeynep H. Coban Akdemir, Tomasz Gambin, Fan Xia, Richard Person, Magdalena Walkiewicz, Chad A. Shaw, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Christine M. Eng, Yaping Yang, Richard A. Gibbs, James R. Lupski, Eric Boerwinkle, Sharon E. Plon

    Udgivet 2015
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  12. 12
    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive af Mari Tokita, Alicia Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Xénia Latypova, Stéphane Bézieau, Pengfei Liu, Connie S. Motter, Catherine Ward Melver, Nathaniel H. Robin, Elena Infante, Marianne McGuire, Areeg El‐Gharbawy, Rebecca O. Littlejohn, Scott D. McLean, Weimin Bi, Carlos A. Bacino, Seema R. Lalani, Daryl A. Scott, Christine M. Eng, Yaping Yang, Christian P. Schaaf, Magdalena Walkiewicz

    Udgivet 2016
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  13. 13
    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms af Karin Weiss, Paulien A. Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F. Martinez, Jill A. Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena Walkiewicz, Joke Beuten, Natalia Gomez‐Ospina, Katrina Haude, Chin-To Fong, Gregory M. Enns, Jonathan A. Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, Koen L.I. van Gassen, Glen R. Monroe, Gijs van Haaften, Lina Basel‐Vanagaite, Xiang‐Jiao Yang, Philippe M. Campeau, Maximilian Muenke

    Udgivet 2016
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  14. 14
    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation af David B. Beck, Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D’Souza, Joann Bodurtha, Weiyi Mu, Kristin Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen F. Macnamara, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J. Tifft, Ivona Aksentijevich, Daniel L. Kastner, Pedro P. Rocha, Achim Werner

    Udgivet 2021
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  15. 15
    POGZ truncating alleles cause syndromic intellectual disability

    POGZ truncating alleles cause syndromic intellectual disability af Janson J. White, Christine R. Beck, Tamar Harel, Jennifer E. Posey, Shalini N. Jhangiani, Sha Tang, Kelly D. Farwell, Zöe Powis, Nancy J. Mendelsohn, Janice Baker, Lynda Pollack, Kati J. Mason, Klaas J. Wierenga, Daniel K. Arrington, Melissa Hall, Apostolos Psychogios, Laura Fairbrother, Magdalena Walkiewicz, Richard Person, Zhiyv Niu, Jing Zhang, Jill A. Rosenfeld, Donna M. Muzny, Christine M. Eng, Arthur L. Beaudet, James R. Lupski, Eric Boerwinkle, Richard A. Gibbs, Yaping Yang, Fan Xia, V. Reid Sutton

    Udgivet 2016
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  16. 16
    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders af Bret L. Bostwick, Scott D. McLean, Jennifer E. Posey, Haley Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell‐Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan‐Khetarpal, Elena Infante, Zeynep Coban‐Akdemir, Karol Miszalski‐Jamka, John L. Jefferies, Jill A. Rosenfeld, Lisa Emrick, Kimberly Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani

    Udgivet 2017
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  17. 17
    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing af Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie S. Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjørg Stray‐Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey G. Reid, Matthew N. Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng

    Udgivet 2014
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  18. 18
    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations af Chun‐An Chen, Daniëlle G.M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard A. Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence E. Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P.M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane‐Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B.A. de Vries, Christian P. Schaaf

    Udgivet 2016
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  19. 19
    Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

    Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function af Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena Walkiewicz, Christopher D. Putnam, Marwan Shinawi, Nermina Saucier, Elise Rizzi, Michael T. Harmon, Molly P. Keppel, Michelle Ritter, Morgan Similuk, Elaine Kulm, Michael Joyce, Adriana A. de Jesus, Raphaela Goldbach‐Mansky, Yi-Shan Lee, Marina Cella, Peggy L. Kendall, Mary C. Dinauer, Jeffrey J. Bednarski, Christina J. Bemrich‐Stolz, Scott Canna, Shirley Abraham, Matthew M. Demczko, Jonathan Powell, Stacie M. Jones, Amy M. Scurlock, Suk See De Ravin, Jack Bleesing, James A. Connelly, V. Koneti Rao, Laura G. Schuettpelz, Megan A. Cooper

    Udgivet 2020
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  20. 20
    <i>SASH3</i>variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

    <i>SASH3</i>variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation af Ottavia M. Delmonte, Jenna Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese, Michael T. Zimmermann, Kerry Dobbs, Marita Bosticardo, Danielle Fink, Shamik Majumdar, Boaz Palterer, Francesca Pala, Nikita R. Dsouza, Marie Pouzolles, Naomi Taylor, Katherine R. Calvo, Stephen R. Daley, Daniel Velez, Anahita Agharahimi, Katherine Myint‐Hpu, Lesia K. Dropulic, Jonathan J. Lyons, Steven M. Holland, Alexandra F. Freeman, Rajarshi Ghosh, Morgan B. Similuk, Julie E. Niemela, Jennifer Stoddard, Douglas B. Kuhns, Raúl Urrutia, Sergio D. Rosenzweig, Magdalena Walkiewicz, Philip M. Murphy, Luigi D. Notarangelo

    Udgivet 2021
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