Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline
Hoegen, Brechtje, Zammit, Alan, Gerritsen, Albert, Engelke, Udo F. H., Castelein, Steven, van de Vorst, Maartje, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Wevers, Ron A., van Gool, Alain J., Gilissen, Christian, Coene, Karlien L. M., Kulkarni, Purva
Published in Metabolites (26.08.2021)
Published in Metabolites (26.08.2021)
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Haer-Wigman, Lonneke, van Zelst-Stams, Wendy Ag, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline Cw, Verheij, Joke Bgm, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel Jf, Kievit, Anneke J, Verhoeven, Virginie Jm, Pott, Jan Wr, Sallevelt, Suzanne Ceh, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans Pm, Hoefsloot, Lies, Yntema, Helger G
Published in European journal of human genetics : EJHG (01.05.2017)
Published in European journal of human genetics : EJHG (01.05.2017)
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Published in European journal of human genetics : EJHG (01.02.2017)
Published in European journal of human genetics : EJHG (01.02.2017)
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BRCA Testing by Single-Molecule Molecular Inversion Probes
Neveling, Kornelia, Mensenkamp, Arjen R, Derks, Ronny, Kwint, Michael, Ouchene, Hicham, Steehouwer, Marloes, van Lier, Bart, Bosgoed, Ermanno, Rikken, Alwin, Tychon, Marloes, Zafeiropoulou, Dimitra, Castelein, Steven, Hehir-Kwa, Jayne, Tjwan Thung, Djie, Hofste, Tom, Lelieveld, Stefan H, Bertens, Stijn M M, Adan, Ivo B J F, Eijkelenboom, Astrid, Tops, Bastiaan B, Yntema, Helger, Stokowy, Tomasz, Knappskog, Per M, Høberg-Vetti, Hildegunn, Steen, Vidar M, Boyle, Evan, Martin, Beth, Ligtenberg, Marjolijn J L, Shendure, Jay, Nelen, Marcel R, Hoischen, Alexander
Published in Clinical chemistry (Baltimore, Md.) (01.02.2017)
Published in Clinical chemistry (Baltimore, Md.) (01.02.2017)
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Journal Article
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
Marouane, Abderrahim, Neveling, Kornelia, Deden, A Chantal, van den Heuvel, Simone, Zafeiropoulou, Dimitra, Castelein, Steven, van de Veerdonk, Frank, Koolen, David A, Simons, Annet, Rodenburg, Richard, Westra, Dineke, Mensenkamp, Arjen R, de Leeuw, Nicole, Ligtenberg, Marjolijn, Matthijsse, Rene, Pfundt, Rolph, Kamsteeg, Erik Jan, Brunner, Han G, Gilissen, Christian, Feenstra, Ilse, de Boode, Willem P, Yntema, Helger G, van Zelst-Stams, Wendy A G, Nelen, Marcel, Vissers, Lisenka E L M
Published in Frontiers in genetics (08.01.2024)
Published in Frontiers in genetics (08.01.2024)
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Circuit breaker with positive off protection
DAVID C. TURNER, RICHARD E. WHITE, RONALD W. CROOKSTON, DOUGLAS C. MARKS, STEVEN CASTELEIN
Year of Publication 11.07.1996
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Year of Publication 11.07.1996
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Circuit breaker with positive off protection
RICHARD EDWIN WHITE III, RONALD WILLIAM CROOKSON, DOUGLAS CHARLES MARKS, DAVID CURTIS TURNER, STEVEN CASTELEIN
Year of Publication 13.06.1994
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Year of Publication 13.06.1994
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Circuit breaker with positive off protection
DAVID C. TURNER, RICHARD E. WHITE, RONALD W. CROOKSTON, DOUGLAS C. MARKS, STEVEN CASTELEIN
Year of Publication 26.05.1994
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Year of Publication 26.05.1994
Patent
Circuit breaker with positive off protection
WHITE, III; RICHARD E, CROOKSTON; RONALD W, MARKS; DOUGLAS C, TURNER; DAVID C, CASTELEIN; STEVEN
Year of Publication 22.03.1994
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Year of Publication 22.03.1994
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Molded case current limiting circuit breaker
WHITE, III; RICHARD E, MALE; ANDREW J, CROOKSTON; RONALD W, MARKS; DOUGLAS C, BEATTY, JR.; WILLIAM E, MAIER; ALFRED E, SALVATI; JOHN G, CHIEN; YUN-KO N, CASTELEIN; STEVEN
Year of Publication 23.08.1994
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Year of Publication 23.08.1994
Patent
Molded case current limiting circuit breaker
MARKS, DOUGLAS CHARLES, MALE, ANDREW JAMES, MAIER, ALFRED EUGENE, CASTELEIN, STEVEN, CHIEN, YUN-KO NICKEY, WHITE III, RICHARD EDWIN, BEATTY, WILLIAM ELLSWORTH, JR, COOKSTON, RONALD WILLIAM, SALVATI, JOHN GREGORY
Year of Publication 26.05.1993
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Year of Publication 26.05.1993
Patent