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European Journal of Medical Genetics|March 31, 2009
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbancesMarianne Doornbos, Birgit Sikkema-Raddatz, Claudia A L Ruijvenkamp, et al.
Plos One|April 6, 2012
Inflammation aggravates disease severity in Marfan syndrome patientsTeodora Radonic, Piet de Witte, Maarten Groenink, et al.
Molecular Oncology|June 12, 2010
Triple-negative breast cancer: present challenges and new perspectivesFranca Podo, Lutgarde M C Buydens, Hadassa Degani, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 18, 2024
Infiltrative classical monocyte-derived and SPP1 lipid-associated macrophages mediate inflammation and fibrosis in ANCA-associated glomerulonephritisYosta Vegting, Aldo Jongejan, Annette E Neele, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|March 19, 2025
Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort StudyLisa M van den Bersselaar, Ingrid M B H van de Laar, Marieke J H Baars, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2005
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutationM J E Walenkamp, M Karperien, A M Pereira, et al.
Clinical Genetics|May 31, 2008
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genesF H Menko, C M F Kneepkens, N de Leeuw, et al.
International Journal of Cardiology|February 18, 2018
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relativesJudith M A Verhagen, Marlies Kempers, Luc Cozijnsen, et al.
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