Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Marjolein Kriek"'
Autor:
Karlien Mul, Marjolein Kriek, Baziel G.M. van Engelen, Saskia Lassche, Umesh A. Badrising, Nicol C. Voermans, Olivier W.H. van der Heijden, Nienke van der Stoep, Aimee D C Paulussen, Christine E. M. de Die-Smulders, Sanne C. C. Vincenten
Publikováno v:
Clinical Genetics, 101, 149-160
Clinical Genetics, 101, 2, pp. 149-160
Clinical Genetics, 101(2), 149-160. WILEY
Clinical Genetics, 101, 2, pp. 149-160
Clinical Genetics, 101(2), 149-160. WILEY
Contains fulltext : 248860.pdf (Publisher’s version ) (Open Access) Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30298dec965d8f350bb49e2ddaed70ea
http://hdl.handle.net/2066/248860
http://hdl.handle.net/2066/248860
Publikováno v:
Genetics in Medicine, 24(6), 1306-1315. ELSEVIER SCIENCE INC
PURPOSE: Few studies have systematically analyzed the structure and content of laboratory exome sequencing reports from the same patient. METHODS: We merged 8 variants from patients into "normal" exomes to create virtual patient-parent trios. We prov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60abeecd08b0818a2ae1dd5c4bafe2a9
https://pubmed.ncbi.nlm.nih.gov/35389343
https://pubmed.ncbi.nlm.nih.gov/35389343
Autor:
U.A. Badrising, Karlien Mul, Saskia Lassche, Nienke van der Stoep, Baziel G.M. van Engelen, Christine E. M. de Die-Smulders, Olivier W.H. van der Heijden, Sanne C. C. Vincenten, Marjolein Kriek, Nicol C. Voermans, Aimee D C Paulussen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35d88db16b1ea137dde9a476772fa7ad
https://doi.org/10.1111/cge.14031/v2/response1
https://doi.org/10.1111/cge.14031/v2/response1
Autor:
Regina Bökenkamp-Gramann, Daniela Q.C.M. Barge-Schaapveld, Monique Williams, Julie W. Rutten, Karin van der Tuin, Esther A. R. Nibbeling, Claudia A. L. Ruivenkamp, Sylke J. Steggerda, Laura Donker Kaat, Dietje E. Fransen van de Putte, Remco van Doorn, Marjolein Kriek, Ruben S G M Witlox, Maartje van Rij, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Thomas P. Potjer, Emilia K. Bijlsma, Setareh Moghadasi, Yvette van Ierland, Manon Suerink, Emmelien Aten, Gijs W. E. Santen, Remco Visser, Anne Sophie van der Werf–t Lam, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Ratna N G B Tan, Nicolette S. den Hollander, Arend D. J. ten Harkel, Yvonne Hilhorst-Hofstee
Publikováno v:
Genetics in Medicine. 21:2159-2164
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Articl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcea68d20998bde8f8bee4e1a815b939
https://doi.org/10.1038/s41436-018-0363-3
https://doi.org/10.1038/s41436-018-0363-3
Autor:
Setareh Moghadasi, Emilia K. Bijlsma, Remco van Doorn, Monique Williams, Maartje van Rij, Remco Visser, Thomas P. Potjer, Arend D. J. ten Harkel, Yvette van Ierland, Laura Donker Kaat, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Cacha M.P.C.D. Peeters-Scholte, Nicolette S. den Hollander, Ratna N G B Tan, Ruben S G M Witlox, Regina Bökenkamp-Gramann, Julie W. Rutten, Manon Suerink, Marjolein Kriek, Yvonne Hilhorst-Hofstee, Sylke J. Steggerda, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Anne-Sophie van der Werf –’t Lam, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Dietje E. Fransen van de Putte, Arie van Haeringen, Karin van der Tuin, Esther A. R. Nibbeling
Publikováno v:
Genetics in Medicine, 21(5), 1074-1082. Lippincott Williams & Wilkins
Genetics in Medicine, 21(5), 1074-1082
Genetics in Medicine
Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins
Genetics in Medicine, 21(5), 1074-1082
Genetics in Medicine
Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins
Purpose: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be1375788cf6ae5d4c97f805a4d15f1
https://hdl.handle.net/1765/110952
https://hdl.handle.net/1765/110952
Publikováno v:
Genes, 11(12). MDPI
Genes
Genes, Vol 11, Iss 1456, p 1456 (2020)
Genes
Genes, Vol 11, Iss 1456, p 1456 (2020)
The continuous development of new genotyping technologies requires awareness of their potential advantages and limitations concerning utility for pharmacogenomics (PGx). In this review, we provide an overview of technologies that can be applied in PG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2086bedccfbd5c0ea648c8d4f755e7
http://hdl.handle.net/1887/3183021
http://hdl.handle.net/1887/3183021
Publikováno v:
Genetics in Medicine, 23(3), 562-570. SPRINGERNATURE
PURPOSE: Existing research suggests that while some laboratories report variants of uncertain significance, unsolicited findings (UF), and/or secondary findings (SF) when performing exome sequencing, others do not. METHODS: To investigate reporting d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5be2cab11b97663783e0f2543b3a18
https://hdl.handle.net/1887/3184992
https://hdl.handle.net/1887/3184992
Autor:
Amanda Dixon-McIver, J. Traeger-Synodinos, Douglas R. Higgs, Shiwangini Kumar, Evie Maifoshie, Christian Babbs, Veronica J. Buckle, Paul Ooijevaar, Jill M. Brown, Cornelis L. Harteveld, Andrew O.M. Wilkie, Joanne Slater, Marjolein Kriek, Sharon W. Horsley
Publikováno v:
Journal of Medical Genetics, 57(6), 414-421. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics
BackgroundDeletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79ea1525605a7b60733ee8d057982dac
https://hdl.handle.net/1887/3184788
https://hdl.handle.net/1887/3184788
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(3)
Existing research suggests that while some laboratories report variants of uncertain significance, unsolicited findings (UF), and/or secondary findings (SF) when performing exome sequencing, others do not.To investigate reporting differences, we crea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70bf04a1c4e068d46cad288c76d99fbb
https://pubmed.ncbi.nlm.nih.gov/33122805
https://pubmed.ncbi.nlm.nih.gov/33122805
Autor:
Henk-Jan Guchelaar, Mariëtte J.V. Hoffer, Maaike van der Lee, Claudia A. L. Ruivenkamp, Sander Bollen, Marjolein Kriek, Gijs W. E. Santen, William G. Allard, Seyed Y Anvar, Jesse J. Swen
Publikováno v:
Clinical Pharmacology and Therapeutics, 107, 3, pp. 617-627
Clinical Pharmacology and Therapeutics
Clinical Pharmacology and Therapeutics, 107, 617-627
Clinical Pharmacology and Therapeutics. WILEY
Clinical Pharmacology & Therapeutics
Clinical Pharmacology and Therapeutics
Clinical Pharmacology and Therapeutics, 107, 617-627
Clinical Pharmacology and Therapeutics. WILEY
Clinical Pharmacology & Therapeutics
Contains fulltext : 229047.pdf (Publisher’s version ) (Open Access) For ~ 80 drugs, widely recognized pharmacogenetics dosing guidelines are available. However, the use of these guidelines in clinical practice remains limited as only a fraction of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b5d7848da038b11f77b0d6a34c091d
https://hdl.handle.net/2066/229047
https://hdl.handle.net/2066/229047