Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Maartje van Rij"'
Autor:
Brigitte H. W. Faas, Dineke Westra, Sonja A. de Munnik, Maartje van Rij, Carlo Marcelis, Sara Joosten, Ingrid Krapels, Vivian Vernimmen, Malou Heijligers, Marjolein H. Willemsen, Nicole de Leeuw, Tuula Rinne, Rolph Pfundt, Sanne P. Smeekens, Sander P. A. Stegmann, Merryn Macville, Esther Sikkel, Audrey Coumans, Lia Wijnberger, Irma Derks, Josefa van Lent‐Albrechts, Tom Hofste, Raoul Timmermans, Janneke van den End, Servi J. C. Stevens, Ilse Feenstra
Publikováno v:
Prenatal Diagnosis, 43, 4, pp. 527-543
Item does not contain fulltext OBJECTIVE: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exo
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
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
Autor:
Maartje van Rij, Aline Verstraeten, Bart Loeys, Candice Feben, Maaike Alaerts, Marlies Kempers, Willy Hendson, Koenraad Devriendt, Josephina A.N. Meester, Luc De Catte, Mallory Woiski, Marcella Baldewijns, Jotte Rodrigues Bento
Publikováno v:
Molecular Genetics & Genomic Medicine, 9
Molecular Genetics & Genomic Medicine, 9, 10
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, 9, 10
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Background KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro‐intestinal, cardiovascular, and neurological manifestations. Methods Whole exome sequencing was performed in order to identify the underlying pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8af079d4398e043c3f96d8180b389ec
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/244116
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/244116
Autor:
Stéphane Viville, Inge Liebaers, Céline Moutou, Maartje Van Rij, Marjan De Rademaeker, Christine E. M. de Die-Smulders, Joep P.M. Geraedts, Martine De Rycke, Jos C. F. M. Dreesen
Publikováno v:
European Journal of Human Genetics, 20(4), 368-375. Nature Publishing Group
This study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD centres in Brussels, Maastricht and Strasbourg. Information on all 331 PGD intakes for HD, couple
Autor:
Maartje Van Rij, Nienke Muntjewerff, Marij Gielen, Joep P.M. Geraedts, Liesbeth van Osch, Christine E. M. de Die-Smulders, Johannes L.H. Evers, Rutger Lulofs
Publikováno v:
Human Reproduction, 26(7), 1826-1835. Oxford University Press
BACKGROUND: PGD is nowadays a well-established alternative to prenatal diagnosis. However, information with respect to couples' motives and profiles for choosing PGD is scarce. METHODS: A prospective cohort of 264 couples referred for PGD was intervi
Autor:
Claudia A. L. Ruivenkamp, J Anneke Kievit, Maartje van Rij, Iris H I M Hollink, Martine J. van Belzen, Arie van Haeringen, Paulien A. Terhal, Sarina G. Kant
Publikováno v:
American Journal of Medical Genetics Part A, 176(5), 1212-1215. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 176(5), 1212. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 176(5), 1212-1215
American Journal of Medical Genetics. Part A, 176(5), 1212. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 176(5), 1212-1215
The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two
Autor:
Maartje Van Rij, Louis L.H. Peeters, Mark E.A Spaanderman, Iris M. Engelhard, Marcel A. van den Hout, Inge Boullart, T.H.A. Ekhart
Publikováno v:
General Hospital Psychiatry. 24:260-264
Information about the psychological sequelae of pre-eclampsia (PE) is scarce. Post-traumatic stress disorder (PTSD) may develop after exposure to a stress condition. This study explored whether PE predisposes to PTSD in patients and their partners. P
Autor:
Maartje Van Rij, Marjan De Rademaeker, Moutou, C., Dreesen, J., Martine De Rycke, Ingeborg Liebaers, Geraedts, J., Die-Smulders, C. E. M., Stéphane Viville, Working Group Brumastra Pgd
Publikováno v:
Vrije Universiteit Brussel
This study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD centres in Brussels, Maastricht and Strasbourg. Information on all 331 PGD intakes for HD, couple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9d7017ebad5ac7bb1ed934bdc64535e6
https://biblio.vub.ac.be/vubir/0-save-to-more-options-preimplantation-genetic-diagnosis-pgd-for-huntingtons-disease-the-experience-of-three-european-centres(0dc2d9fa-0335-4232-87f6-1cd91ab6aa00).html
https://biblio.vub.ac.be/vubir/0-save-to-more-options-preimplantation-genetic-diagnosis-pgd-for-huntingtons-disease-the-experience-of-three-european-centres(0dc2d9fa-0335-4232-87f6-1cd91ab6aa00).html
Autor:
Martine De Rycke, Harper, J., Edith Coonen, Harton, G., Céline Moutou, Tugce Pehlivan, Joanne Traeger-Synodinos, Maartje Van Rij, Goossens, V.
Publikováno v:
Human Reproduction, 25(11), 2685-2707. Oxford University Press
Vrije Universiteit Brussel
Vrije Universiteit Brussel
The 10th report of the European Society of Human Reproduction and Embryology (ESHRE) PGD Consortium is presented, documenting cycles collected for the calendar year 2007 and follow-up of the pregnancies and babies born until October 2008 which result