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American Journal of Medical Genetics. Part A|August 1, 2012
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterizationCheryl DeScipio, Laura Conlin, Jill Rosenfeld, et al.
European Journal of Medical Genetics|June 24, 2017
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yieldE Overwater, K Floor, D van Beek, et al.
Open Research Europe|October 15, 2024
Atacama Large Aperture Submillimeter Telescope (AtLAST) science: Surveying the distant UniverseEelco van Kampen, Tom Bakx, Carlos De Breuck, et al.
Journal of the American College of Cardiology|May 29, 2012
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variantsDenise van der Linde, Ingrid M B H van de Laar, Aida M Bertoli-Avella, et al.
Nature Genetics|January 11, 2011
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritisIngrid M B H van de Laar, Rogier A Oldenburg, Gerard Pals, et al.
HGG Advances|April 17, 2025
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathiesEmily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Circulation. Genomic and Precision Medicine|April 16, 2024
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 PatientsSerwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|February 5, 2026
Building the foundations for an international patient-centred outcomes set for psoriasis: A scoping studyEmma Vyvey, Rani Soenen, Hazel H Oon, et al.
Bioanalysis|June 18, 2011
Recommendations on: internal standard criteria, stability, incurred sample reanalysis and recent 483s by the Global CRO Council for BioanalysisSteve Lowes, Jim Jersey, Ronald Shoup, et al.
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