Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Endels, Kristof"'
Autor:
Bessems, Sophie, Timmermans, Inge, Vercammen, M., Van Der Wilt, Linda, Endels, Kristof, Stouffs, Katrien, Caljon, Ben, Lissens, Willy, Bonduelle, Mary-Louise, Seneca, Sara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::f119110de29ebe14013289d730878c4e
https://biblio.vub.ac.be/vubir/amplidex-fmr1-pcr-kit-as-a-substitute-for-the-southern-blot-technique-to-detect-large-cgg-repeats-in-fmr1-gene(8511a5b2-1709-4299-ab0a-a99ec703431e).html
https://biblio.vub.ac.be/vubir/amplidex-fmr1-pcr-kit-as-a-substitute-for-the-southern-blot-technique-to-detect-large-cgg-repeats-in-fmr1-gene(8511a5b2-1709-4299-ab0a-a99ec703431e).html
Autor:
Peeters, Uschi, Bonduelle, Mary-Louise, Brugada, Pedro, Comurcu-Bayrak, Evrim, Peirsman, Liszl, Breckpot, Karine, Pappaert, Gudrun, Endels, Kristof, Van Dooren, Sonia
Brugada syndrome is a cardiac channelopathy characterized by an increased risk of cardiac arrhythmias and sudden cardiac death. In 20% of Brugada syndrome patients mutations are found in the SCN5A gene. This gene codes for the alpha-subunit of the ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::8c2cad8c366b3f0ca683da424691c804
https://biblio.vub.ac.be/vubir/novel-variants-in-brugada-syndrome-scn1b-to-scn4b-candidate-genes(84ed27fc-442c-4f9d-b1f0-11fc2db5e424).html
https://biblio.vub.ac.be/vubir/novel-variants-in-brugada-syndrome-scn1b-to-scn4b-candidate-genes(84ed27fc-442c-4f9d-b1f0-11fc2db5e424).html
Autor:
Van Dooren, Sonia, Seneca, Sara, Endels, Kristof, Keymolen, Kathelijne, De Rademaeker, Marjan, Van Berkel, Kim, Lissens, Willy, Bonduelle, Mary-Louise
Molecular testing of FMR1 (CGG)n expanded repeats remains hard to tackle given the limitations of sizing PCR in detecting large and uninformative alleles, resulting in a significant number of samples that require confirmation through laborious southe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ee2e497d348d3b6115133cbdd7170ab3
https://biblio.vub.ac.be/vubir/facilitating-the-fragile-x-post-and-prenatal-genetic-diagnostic-testing-workflow-by-use-of-the-abbott-fmr1-tppcr-and-fmr1-sizing-pcr-products(aa8a3448-e05e-429f-9369-1278731e5847).html
https://biblio.vub.ac.be/vubir/facilitating-the-fragile-x-post-and-prenatal-genetic-diagnostic-testing-workflow-by-use-of-the-abbott-fmr1-tppcr-and-fmr1-sizing-pcr-products(aa8a3448-e05e-429f-9369-1278731e5847).html
Autor:
Van Dooren, Sonia, Seneca, Sara, Endels, Kristof, Keymolen, Kathelijne, De Rademaeker, Marjan, Kim, Van Berkel, Lissens, Willy, Bonduelle, Mary-Louise
Molecular testing of FMR1 (CGG)n expanded repeats remains hard to tackle given the limitations of sizing PCR in detecting large and uninformative alleles, resulting in a significant number of samples that require confirmation through laborious southe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::7c31efefc56c25fd3348676023ad4fc3
https://biblio.vub.ac.be/vubir/facilitating-the-fragile-x-post-and-prenatal-genetic-diagnostic-testing-workflow-through-the-abbott-fraxa-tppcr-and-sizing-pcr(fbb9fe4a-020b-487c-954a-eae11ab52e4f).html
https://biblio.vub.ac.be/vubir/facilitating-the-fragile-x-post-and-prenatal-genetic-diagnostic-testing-workflow-through-the-abbott-fraxa-tppcr-and-sizing-pcr(fbb9fe4a-020b-487c-954a-eae11ab52e4f).html
Autor:
Peeters, Uschi, Bonduelle, Mary-Louise, Peirsman, Liszl, Endels, Kristof, Comurcu-Bayrak, Evrim, Brugada, Pedro, Breckpot, Karine, Van Dooren, Sonia
Background: Brugada syndrome (BrS) is one of the causes of sudden cardiac death in young people. In 20% of BrS patients mutations are found in the SCN5A gene, coding for the beta-subunit of the cardiac sodium channel. Other genes have also been assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::bbda4bf8ba0f77e3820a106d687d1e95
https://biblio.vub.ac.be/vubir/identification-of-novel-variants-in-brugada-syndrome-candidate-genes(237249c9-b007-4950-a697-2523a62b8c6d).html
https://biblio.vub.ac.be/vubir/identification-of-novel-variants-in-brugada-syndrome-candidate-genes(237249c9-b007-4950-a697-2523a62b8c6d).html
Autor:
Komurcu-Bayrak, Evrim, Endels, Kristof, Lissens, Willy, Seneca, Sara, Bayrak, F., Sarkozy, Andrea, Brugada, Pedro, Bonduelle, Mary-Louise, Van Dooren, Sonia
Brugada syndrome (BrS) is a genetic disorder characterized by lethal ventricular fibrillation and right precordial ST segment elevation on ECG. We aimed to investigate whether mutations in the four beta-subunits of sodium channel genes (SCN1B to SCN4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::9164af017f344720edaef8592da7a772
https://biblio.vub.ac.be/vubir/novel-variants-of-betasubunits-of-sodium-channel-genes-in-brugada-syndrome(b007ee5e-5fed-4b25-b655-763951b939da).html
https://biblio.vub.ac.be/vubir/novel-variants-of-betasubunits-of-sodium-channel-genes-in-brugada-syndrome(b007ee5e-5fed-4b25-b655-763951b939da).html
Autor:
Van Dooren, Sonia, Endels, Kristof, Keymolen, Kathelijne, Seneca, Sara, Liebaers, Ingeborg, Lissens, Willy
Background: Hemoglobinopathies are common monogenic diseases forming a major public health problem due to their severity and disabling nature. Genetic identification of the two most frequently observed missense mutations in the beta-globin gene, HbS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::af4893c583f5a146318925ec0ed3c1a1
https://biblio.vub.ac.be/vubir/rapid-sensitive-and-discriminatory-hbs-and-hbc-mutation-detection-using-high-resolution-melting-analysis(5c279976-e110-43e2-a6b4-0019f8703551).html
https://biblio.vub.ac.be/vubir/rapid-sensitive-and-discriminatory-hbs-and-hbc-mutation-detection-using-high-resolution-melting-analysis(5c279976-e110-43e2-a6b4-0019f8703551).html
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