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Birgit Sikkema-Raddatz

Showing results (11-20 of 60) with videos related to

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European Journal of Medical Genetics|June 18, 2010
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletionErica H Gerkes, Roel Hordijk, Trijnie Dijkhuizen, et al.
European Journal of Medical Genetics|April 14, 2009
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the NetherlandsRon Hochstenbach, Ellen van Binsbergen, John Engelen, et al.
European Journal of Medical Genetics|May 20, 2009
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literatureNicolien Hanemaaijer, Trijnie Dijkhuizen, Maaike Haadsma, et al.
Clinical Chemistry|July 3, 2020
Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation SequencingEddy N de Boer, Lennart F Johansson, Kim de Lange, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 29, 2016
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsyDanique R M Vlaskamp, Patrick Rump, Petra M C Callenbach, et al.
European Journal of Medical Genetics|November 10, 2015
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)Omid Jazayeri, Xuanzhu Liu, Cleo C van Diemen, et al.
BMC Bioinformatics|December 19, 2018
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testingLennart F Johansson, Hendrik A de Weerd, Eddy N de Boer, et al.
Frontiers in Genetics|March 18, 2022
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic CardiogeneticsMohamed Z Alimohamed, Helga Westers, Yvonne J Vos, et al.
Human Mutation|April 18, 2012
The introduction of arrays in prenatal diagnosis: a special challengeAnnalisa Vetro, Katelijne Bouman, Ros Hastings, et al.
Advanced Genetics (Hoboken, N.J.)|January 9, 2023
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literatureK Joeri van der Velde, Sander van den Hoek, Freerk van Dijk, et al.
Pageof 6

Showing results (11-20 of 60) with videos related to

Sort By:
Pageof 6
European Journal of Medical Genetics|June 18, 2010
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletionErica H Gerkes, Roel Hordijk, Trijnie Dijkhuizen, et al.
European Journal of Medical Genetics|April 14, 2009
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the NetherlandsRon Hochstenbach, Ellen van Binsbergen, John Engelen, et al.
European Journal of Medical Genetics|May 20, 2009
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literatureNicolien Hanemaaijer, Trijnie Dijkhuizen, Maaike Haadsma, et al.
Clinical Chemistry|July 3, 2020
Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation SequencingEddy N de Boer, Lennart F Johansson, Kim de Lange, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 29, 2016
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsyDanique R M Vlaskamp, Patrick Rump, Petra M C Callenbach, et al.
European Journal of Medical Genetics|November 10, 2015
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)Omid Jazayeri, Xuanzhu Liu, Cleo C van Diemen, et al.
BMC Bioinformatics|December 19, 2018
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testingLennart F Johansson, Hendrik A de Weerd, Eddy N de Boer, et al.
Frontiers in Genetics|March 18, 2022
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic CardiogeneticsMohamed Z Alimohamed, Helga Westers, Yvonne J Vos, et al.
Human Mutation|April 18, 2012
The introduction of arrays in prenatal diagnosis: a special challengeAnnalisa Vetro, Katelijne Bouman, Ros Hastings, et al.
Advanced Genetics (Hoboken, N.J.)|January 9, 2023
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literatureK Joeri van der Velde, Sander van den Hoek, Freerk van Dijk, et al.
Pageof 6