Hasil Pencarian - Debby M. E. I. Hellebrekers

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  1. 1
    Methylation-Specific PCR Unraveled

    Methylation-Specific PCR Unraveled oleh Sarah Derks, Marjolein H. F. M. Lentjes, Debby M. E. I. Hellebrekers, Adriaan P. de Bruïne, James G. Herman, Manon van Engeland

    Diterbitkan 2004-01-01
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  2. 2
    Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

    Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report oleh Maria Eleftheriadou, Evita Medici‐ van den Herik, Kyra Stuurman, Yolande vanBever, Debby M. E. I. Hellebrekers, Marjon vanSlegtenhorst, George Ruijter, Tahsin Stefan Barakat

    Diterbitkan 2021-02-01
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  3. 3
    Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

    Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect oleh Tom E. J. Theunissen, Tom E. J. Theunissen, Mike Gerards, Debby M. E. I. Hellebrekers, Florence H. van Tienen, Rick Kamps, Suzanne C. E. H. Sallevelt, Elvira N. M. M.-D. Hartog, Hans R. Scholte, Robert M. Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Radek Szklarczyk, Hubert J. M. Smeets, Hubert J. M. Smeets, Hubert J. M. Smeets

    Diterbitkan 2017-10-01
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  4. 4
    RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

    RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis oleh Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano

    Diterbitkan 2022-07-01
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  5. 5
    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause oleh Tom E. J. Theunissen, Tom E. J. Theunissen, Minh Nguyen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Radek Szklarczyk, Mike Gerards, Mike Gerards, Irenaeus F. M. de Coo, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets, Hubert J. M. Smeets

    Diterbitkan 2018-10-01
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  6. 6
    Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

    Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing oleh Anouk E. J. Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M. E. I. Hellebrekers, Servi J. C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M. J. van Uum, Jelle Achten, Lars Hamers, Marjan Naghdi, Lisenka E. L. M. Vissers, Ron J. T. van Golde, Guido de Wert, Jos C. F. M. Dreesen, Christine de Die-Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimee D. C. Paulussen, Masoud Zamani Esteki

    Diterbitkan 2024-09-01
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