Found: 10

Select item for more details and to access through your institution.

  • A nonsensemutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.

    Published in:
    BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1936-z
    By:
    • Ducro, Bart J.;
    • Schurink, Anouk;
    • Bastiaansen, John W. M.;
    • Boegheim, Iris J. M.;
    • van Steenbeek, Frank G.;
    • Vos-Loohuis, Manon;
    • Nijman, Isaac J.;
    • Monroe, Glen R.;
    • Hellinga, Ids;
    • Dibbits, Bert W.;
    • Back, Willem;
    • Leegwater, Peter A. J.
    Publication type:
    Article

  • Further confirmation of the MED13L haploinsufficiency syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69
    By:
    • van Haelst, Mieke M;
    • Monroe, Glen R;
    • Duran, Karen;
    • van Binsbergen, Ellen;
    • Breur, Johannes M;
    • Giltay, Jacques C;
    • van Haaften, Gijs
    Publication type:
    Article

  • Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.

    Published in:
    BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3186-0
    By:
    • Leegwater, Peter A.;
    • Vos-Loohuis, Manon;
    • Ducro, Bart J.;
    • Boegheim, Iris J.;
    • van Steenbeek, Frank G.;
    • Nijman, Isaac J.;
    • Monroe, Glen R.;
    • Bastiaansen, John W. M.;
    • Dibbits, Bert W.;
    • van de Goor, Leanne H.;
    • Hellinga, Ids;
    • Back, Willem;
    • Schurink, Anouk
    Publication type:
    Article

  • Identification of human D lactate dehydrogenase deficiency.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09458-6
    By:
    • Monroe, Glen R.;
    • van Eerde, Albertien M.;
    • Tessadori, Federico;
    • Duran, Karen J.;
    • Savelberg, Sanne M. C.;
    • van Alfen, Johanna C.;
    • Terhal, Paulien A.;
    • van der Crabben, Saskia N.;
    • Lichtenbelt, Klaske D.;
    • Fuchs, Sabine A.;
    • Gerrits, Johan;
    • van Roosmalen, Markus J.;
    • van Gassen, Koen L.;
    • van Aalderen, Mirjam;
    • Koot, Bart G.;
    • Oostendorp, Marlies;
    • Duran, Marinus;
    • Visser, Gepke;
    • de Koning, Tom J.;
    • Calì, Francesco
    Publication type:
    Article

  • Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

    Published in:
    2017
    By:
    • Lipstein, Noa;
    • Verhoeven-Duif, Nanda M.;
    • Michelassi, Francesco E.;
    • Calloway, Nathaniel;
    • van Hasselt, Peter M.;
    • Pienkowska, Katarzyna;
    • van Haaften, Gijs;
    • van Haelst, Mieke M.;
    • van Empelen, Ron;
    • Cuppen, Inge;
    • van Teeseling, Heleen C.;
    • Evelein, Annemieke M. V.;
    • Vorstman, Jacob A.;
    • Thoms, Sven;
    • Jahn, Olaf;
    • Duran, Karen J.;
    • Monroe, Glen R.;
    • Ryan, Timothy A.;
    • Taschenberger, Holger;
    • Dittman, Jeremy S.
    Publication type:
    journal article

  • Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16641-7
    By:
    • Stangl, Christina;
    • de Blank, Sam;
    • Renkens, Ivo;
    • Westera, Liset;
    • Verbeek, Tamara;
    • Valle-Inclan, Jose Espejo;
    • González, Rocio Chamorro;
    • Henssen, Anton G.;
    • van Roosmalen, Markus J.;
    • Stam, Ronald W.;
    • Voest, Emile E.;
    • Kloosterman, Wigard P.;
    • van Haaften, Gijs;
    • Monroe, Glen R.
    Publication type:
    Article

  • Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.

    Published in:
    Cancers, 2021, v. 13, n. 10, p. 2430, doi. 10.3390/cancers13102430
    By:
    • Roze, Joline F.;
    • Kutzera, Joachim;
    • Koole, Wouter;
    • Ausems, Margreet G. E. M.;
    • Engelstad, Kristi;
    • Piek, Jurgen M. J.;
    • de Kroon, Cor D.;
    • Verheijen, René H. M.;
    • van Haaften, Gijs;
    • Zweemer, Ronald P.;
    • Monroe, Glen R.;
    • Desouki, Mohamed Mokhtar;
    • Fadare, Oluwole
    Publication type:
    Article

  • Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers.

    Published in:
    Life (2075-1729), 2020, v. 10, n. 11, p. 266, doi. 10.3390/life10110266
    By:
    • Wu, Xiaoyan;
    • den Boer, Elise R.;
    • Vos-Loohuis, Manon;
    • Steenbeek, Frank G. van;
    • Monroe, Glen R.;
    • Nijman, Isaäc J.;
    • Leegwater, Peter. A. J.;
    • Fieten, Hille
    Publication type:
    Article

  • Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
    By:
    • Josifova, Dragana J.;
    • Monroe, Glen R.;
    • Tessadori, Federico;
    • Graaff, Esther de;
    • van der Zwaag2, Bert;
    • Mehta, Sarju G.;
    • Harakalova, Magdalena;
    • Duran, Karen J.;
    • Savelberg, Sanne M.C.;
    • Nijman, Isaäc J.;
    • Jungbluth, Heinz;
    • Hoogenraad, Casper C.;
    • Bakkers, Jeroen;
    • Knoers, Nine V.;
    • Firth, Helen V.;
    • Beales, Philip L.;
    • Haaften, Gijs van;
    • van Haelst, Mieke M.
    Publication type:
    Article

  • Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
    By:
    • Monroe, Glen R;
    • Harakalova, Magdalena;
    • van der Crabben, Saskia N;
    • Majoor‐Krakauer, Danielle;
    • Bertoli‐Avella, Aida M;
    • Moll, Frans L;
    • Oranen, Björn I;
    • Dooijes, Dennis;
    • Vink, Aryan;
    • Knoers, Nine V;
    • Maugeri, Alessandra;
    • Pals, Gerard;
    • Nijman, Isaac J;
    • van Haaften, Gijs;
    • Baas, Annette F
    Publication type:
    Article