Re: Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts. S. Ensing, C. E. Kleinrouweler, S. M. Maas, C. M. Bilardo, C. M. A. M. Van der Horst and E. Pajkrt. Ultrasound Obstet Gynecol 2014; 44: 154-159.

Autor: Trudell AS; Washington University School of Medicine, 4911 Barnes Jewish Hospital Plaza, Saint Louis, MO, 63110, USA. trudella@wudosis.wustl.edu.

Publikováno v: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2014 Aug; Vol. 44 (2), pp. 135.

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Autor: I. M. Krzyzewska, M. Alders, S. M. Maas, J. Bliek, A. Venema, P. Henneman, F. I. Rezwan, K. v. d. Lip, A. N. Mul, D. J. G. Mackay, M. M. A. M. Mannens

Publikováno v: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-12 (2019)

Abstract Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of the cases,

Externí odkaz: https://doaj.org/article/fa8f28f5a2ba43c49cc74196ed5d7842

Von Willebrand disease type 2M: Correlation between genotype and phenotype

Autor: Annet Simons, Paul P. T. Brons, Frank W.G. Leebeek, Daniëlle Meijer, Selene C M Schoormans, Britta A P Laros-van Gorkom, Waander L. van Heerde, Sandy Krouwel, Laurens Nieuwenhuizen, Dominique P M S M Maas, Nicole M. A. Blijlevens, Saskia E M Schols, Ferdows Atiq

Publikováno v: Journal of Thrombosis and Haemostasis, 20(2), 316-327. Wiley-Blackwell Publishing Ltd
Journal of Thrombosis and Haemostasis, 20, 2, pp. 316-327
Journal of Thrombosis and Haemostasis, 20, 316-327

Contains fulltext : 248232.pdf (Publisher’s version ) (Open Access) BACKGROUND: An appropriate clinical diagnosis of von Willebrand disease (VWD) can be challenging because of a variable bleeding pattern and laboratory phenotype. Genotyping is a po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cc08c282316528b8364c12e641bfea
https://pure.eur.nl/en/publications/ddb294bc-b7d6-4300-b9b9-372b6bb0b800

[Temporary suspension of AstraZeneca's vaccine; a reconstruction]

Autor: D P M S M, Maas, C, Kramers, H J C A, Smit, S, Middeldorp, I, Helsloot

Publikováno v: Nederlands tijdschrift voor geneeskunde. 165

In the middle of the worldwide COVID-19 crisis, the whole of Europe was alarmed about a possible side effect of the AstraZeneca vaccine against COVID-19. Consequently, the use of this AstraZeneca vaccine was temporarily suspended in many European nat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4dec5406c3017e6ec73dd35e978bb2e4
https://pubmed.ncbi.nlm.nih.gov/33914428

Extreme Phenotypic Variability of ACTG1‐Related Disorders in Hearing Loss.

Autor: Bernardi, Maria T.¹ (AUTHOR), Ramzan, Memoona² (AUTHOR), Calderon, Laura³ (AUTHOR), Salvatore, Franco¹ (AUTHOR), De Rosa, Maria Agustina¹ (AUTHOR), Bivona, Stephanie⁴ (AUTHOR), Armando, Romina⁵ (AUTHOR), Vazquez, Natalia⁵ (AUTHOR), Azcoiti, Maria Esnaola⁶ (AUTHOR), Marti, Marcelo A.^1,7 (AUTHOR), Arberas, Claudia⁵ (AUTHOR), Ropelato, Maria Gabriela⁶ (AUTHOR), Olha, Silvina³ (AUTHOR), Lam, Byron L.⁸ (AUTHOR), Telischi, Fred F.⁹ (AUTHOR), Tekin, Mustafa^2,4 (AUTHOR), Walz, Katherina^1,2,4 (AUTHOR) kwalz@miami.edu

Publikováno v: Advanced Genetics. Dec2024, Vol. 5 Issue 4, p1-5. 5p.