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European Journal of Human Genetics : EJHG|May 1, 2014
Further confirmation of the MED13L haploinsufficiency syndromeMieke M van Haelst, Glen R Monroe, Karen Duran, et al.
Life (Basel, Switzerland)|November 4, 2020
Investigation of Genetic Modifiers of Copper Toxicosis in Labrador RetrieversXiaoyan Wu, Elise R den Boer, Manon Vos-Loohuis, et al.
European Journal of Human Genetics : EJHG|July 1, 2018
Whole-exome sequencing in intellectual disability; cost before and after a diagnosisTerry Vrijenhoek, Eline M Middelburg, Glen R Monroe, et al.
European Journal of Human Genetics : EJHG|March 10, 2016
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromesTamar I de Vries, Glen R Monroe, Martine J van Belzen, et al.
Cancers|June 2, 2021
Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline VariantsJoline F Roze, Joachim Kutzera, Wouter Koole, et al.
BMC Genomics|October 11, 2015
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horsesBart J Ducro, Anouk Schurink, John W M Bastiaansen, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Joubert syndrome: genotyping a Northern European patient cohortHester Y Kroes, Glen R Monroe, Bert van der Zwaag, et al.
Nature Communications|June 7, 2020
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencingChristina Stangl, Sam de Blank, Ivo Renkens, et al.
BMC Genomics|October 30, 2016
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7Peter A Leegwater, Manon Vos-Loohuis, Bart J Ducro, et al.
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