Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Srebniak, Gosia"'
Publikováno v:
In Clinical Genome Sequencing 2019:157-180
Autor:
Diderich, Karin, Joosten, Marieke, Govaerts, LCP, van Opstal, Diane, Go, Attie, Knapen, Maarten, Galjaard, Robert-Jan, Hoefsloot, EH, Srebniak, Gosia
Publikováno v:
Prenatal Diagnosis, 39(11), 1039-1040. John Wiley & Sons Ltd.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::502a4234dfd03ef532c495fd75fee28b
https://pure.eur.nl/en/publications/90837ae0-2740-4fcd-ae79-128cb69241fc
https://pure.eur.nl/en/publications/90837ae0-2740-4fcd-ae79-128cb69241fc
Autor:
de Graaf, G, Engelen, JJM, Gijsbers, ACJ, Hochstenbach, R, Hoffer, MJV, Kooper, AJA, Sikkema-Raddatz, B, Srebniak, Gosia, van der Kevie-Kersemaekers, AMF, van Zutven, Laura, Voorhoeve, E
Publikováno v:
Journal of Intellectual Disability Research, 61(5), 461-470. Wiley-Blackwell Publishing Ltd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::2bf186986535802b92dfb8b77575425d
https://pure.eur.nl/en/publications/cda36083-bbbb-4b92-a15d-9c65211e7afa
https://pure.eur.nl/en/publications/cda36083-bbbb-4b92-a15d-9c65211e7afa
Autor:
Govaerts, LCP, Srebniak, Gosia, Diderich, Karin, Joosten, Marieke, Riedijk, Sam, Knapen, Maarten, Go, Attie, Papatsonis, D, de Graaf, K, Toolenaar, T, Steen, Sanne, Huijbregts, Gido, Knijnenburg, Jeroen, Vries, Femke, Opstal, D, Galjaard, Robert-Jan
Publikováno v:
Prenatal Diagnosis, 37(1), 73-80. John Wiley & Sons Ltd.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::5d8d95e0581aedc0d94629da67c4dd45
https://pure.eur.nl/en/publications/d37d4c13-a784-4136-bdf0-646ea4701328
https://pure.eur.nl/en/publications/d37d4c13-a784-4136-bdf0-646ea4701328
Autor:
Bednarek, S, Borowski, D, Breborowicz, GH, Cnota, W, Czuba, B, Dubiel, M, Janiak, K, Kosinska-Kaczynska, K, Lewandowska, A, Nowakowska, B, Pietryga, M, Ropacka-Lesiak, M, Serwach, M, Sieroszewski, P, Sodowski, K, Szaflik, K, Srebniak, Gosia, Wertheim-Tysarowska, K, Wegrzyn, P, Wielgos, M, Wloch, A
Publikováno v:
Diagnostyka
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::b91c11e3bddbb9d7ef7094fd6d37da34
https://pure.eur.nl/en/publications/78c6428f-9364-4f4c-8728-d82224d65cbb
https://pure.eur.nl/en/publications/78c6428f-9364-4f4c-8728-d82224d65cbb
Autor:
Srebniak, Gosia, Opstal, D, Joosten, Marieke, Diderich, Karin, Vries, Femke, Riedijk, Sam, Knapen, Maarten, Go, Attie, Govaerts, LCP, Galjaard, Robert-Jan
Publikováno v:
Ultrasound in Obstetrics & Gynecology, 45(4), 363-372. John Wiley & Sons Ltd.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::eefdcf98b5db4880fad09c6990dc092a
https://pure.eur.nl/en/publications/e64c41d0-b677-4765-b3b7-a4c67a0e98ec
https://pure.eur.nl/en/publications/e64c41d0-b677-4765-b3b7-a4c67a0e98ec
Publikováno v:
Prenatal Diagnosis, 34(8), 806-808. John Wiley & Sons Ltd.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::3e5219ebeb4d5cf49a18507086b4f10b
https://pure.eur.nl/en/publications/78a0fad8-01f7-49c5-be93-bb2c4975a39e
https://pure.eur.nl/en/publications/78a0fad8-01f7-49c5-be93-bb2c4975a39e
Publikováno v:
Ultrasound in Obstetrics & Gynecology, 43(2), 139-146. John Wiley & Sons Ltd.
Objective To establish the prevalence of submicroscopic genetic copy number variants (CNVs) in fetuses with a structural ultrasound anomaly (restricted to one anatomical system) and a normal karyotype. The aim was to determine the diagnostic and prog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c85d78377904b7bf1480357b96517c65
https://pure.eur.nl/en/publications/cd02d8c4-a95c-45fb-8120-54858d1cd7e9
https://pure.eur.nl/en/publications/cd02d8c4-a95c-45fb-8120-54858d1cd7e9
Autor:
Kowalczyk, M, Kowalczyk, M (Malgorzata), Tomaszewska, A, Podbiol-Palenta, A, Remiszewska, B, Galjaard, Robert-Jan, Zajaczek, S, Srebniak, Gosia
Publikováno v:
American Journal of Medical Genetics Part A, 161A(6), 1501-1504. Wiley-Liss Inc.
There is a growing list of deletions and duplications involvingeuchromaticG-positive,butalsoG-negativebandsthatseemtobeharmless variants, as they are found in phenotypically normalindividuals [Barber, 2005a; Kowalczyk et al., 2007; Srebniaketal.,2011
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c8c4758b1d403af0edc01fccc29e90
https://pubmed.ncbi.nlm.nih.gov/23633153
https://pubmed.ncbi.nlm.nih.gov/23633153
Autor:
Afawi, Zaid, Bernhardt, Barbara A., Biesecker, Barbara B., Biesecker, Leslie G., Bouwkamp, Christian G., Cornelis, Candice, de Wert, Guido, Diderich, Karin, Dondorp, Wybo, Galjaard, Robert-Jan, Howard, Heidi Carmen, Janssens, A. Cecile J.W., Klein, William M.P., Kushner, Steven A., Niemiec, Emilia, Riedijk, Sam, Srebniak, Gosia, Tibben, Aad, Turbitt, Erin, Vos, Joel, Williams, Marc S., Wouters, Roel H.P.
Publikováno v:
In Clinical Genome Sequencing 2019:xi-xii