Kết quả tìm kiếm - Serwet Demirdas

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  1. 1
    Specific delivering of RNAi using Spike's aptamer‐functionalized lipid nanoparticles for targeting SARS‐CoV‐2: A strong anti‐Covid drug in a clinical case study

    Specific delivering of RNAi using Spike's aptamer‐functionalized lipid nanoparticles for targeting SARS‐CoV‐2: A strong anti‐Covid drug in a clinical case study Bằng Haidar Saify Nabiabad, Massoume Amini, Serwet Demirdas

    Được phát hành 2021
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    Artigo
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  2. 2
    The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands

    The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands Bằng I. Eijgelshoven, Serwet Demirdas, Trevor A. Smith, Jeanni M.T. van Loon, Sabine Latour, Annet M. Bosch

    Được phát hành 2013
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    Artigo
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  3. 3
    Bone health in phenylketonuria: a systematic review and meta-analysis

    Bone health in phenylketonuria: a systematic review and meta-analysis Bằng Serwet Demirdas, Kathryn E. Coakley, Peter H. Bisschop, Carla E. M. Hollak, Annet M. Bosch, Rani H. Singh

    Được phát hành 2015
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    Revisão
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  4. 4
    Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform

    Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform Bằng Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, Janneke G. Langendonk, Hidde H. Huidekoper, Monique J. Williams, W. Onkenhout, Edwin H. Jacobs, Henk J. Blom, George J. G. Ruijter

    Được phát hành 2019
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    Artigo
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  5. 5
    The Ehlers–Danlos syndromes, rare types

    The Ehlers–Danlos syndromes, rare types Bằng Angela F. Brady, Serwet Demirdas, Sylvie Fournel‐Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer‐Seebacher, Tomoki Kosho, Roberto Mendoza‐Londono, Michael Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol C. Voermans, Johannes Zschocke, Fransiska Malfait

    Được phát hành 2017
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  6. 6
    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study

    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study Bằng Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas, Eelco Dulfer, Apollonia T. J. M. Helderman‐van den Enden, Yvonne Hilhorst‐Hofstee, Robert M. Kauling, Marlies Kempers, Martijn A. Oudijk, Alessandra Maugeri, Hennie T. Brüggenwirth, Arjan C. Houweling, Serwet Demirdas

    Được phát hành 2025
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    Artigo
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  7. 7
    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation Bằng D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Céline Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa De Franco, Paula Jorge, Sophie C. Huffels, Marina P. Hommersom, Sian Ellard, Dirk J. Lefeber, Avni Santani, Nicholas J. Hand, Hans van Bokhoven, Miao He, Arjan P.M. de Brouwer

    Được phát hành 2021
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    Artigo
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  8. 8
    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients Bằng Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, J.D. Bos, Suzanne Alsters, Marieke J.H. Baars, Annette F. Baas, Özlem Baysal, Saskia N. van der Crabben, Eelco Dulfer, Noor A. A. Giesbertz, Apollonia T.J.M. Helderman-van den Enden, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Fenne L. Komdeur, Bart Loeys, Daniëlle Majoor‐Krakauer, Charlotte W. Ockeloen, Eline Overwater, J. Peter van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar, Arjan C. Houweling

    Được phát hành 2024
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    Artigo
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  9. 9
    The 2017 international classification of the Ehlers–Danlos syndromes

    The 2017 international classification of the Ehlers–Danlos syndromes Bằng Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Britta Berglund, James H. Black, Lara Bloom, Jessica Bowen, Angela F. Brady, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Diana Johnson, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle

    Được phát hành 2017
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    Artigo
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  10. 10
    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <sc... Bằng Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, María J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogné, Samantha A. Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S. Cohen, Katheryn Grand, Dayna Morel Swols, Anne Slavotinek, Hessa F. Albassam, Swati Naik, John Dean, Nicola Ragge, Cinzia Costa, Maria Giovanna Tedesco, Rachel Harrison, Arjan Bouman, Emily Palen, Thomas D. Challman, Marjolein H. Willemsen, Julie Vogt, Christopher Cunniff, Katherine Bergstrom, Jagdeep S. Walia, Ange‐Line Bruel, Usha Kini, Fowzan S. Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Natale Girotto, Diana Johnson, Ruth Newbury‐Ecob, Charlotte W. Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M. Graham, Tyler Mark Pierson, Meena Balasubramanian

    Được phát hành 2021
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    Artigo
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  11. 11
    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Bằng Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra Zwijnenburg, Joaquim Sá, C Reis, Carlos López-Otı́n, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez‐Lara, John M. Graham, Kamer Tezcan, G. Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Pérez‐Jurado, Tjitske Kleefstra, Peter Penzes

    Được phát hành 2019
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    Artigo
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