Preclinical modeling of Loeys-Dietz syndrome : insights into mechanisms and therapy
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Orphanet journal of rare diseases - ISSN 1750-1172-21:1 (2026) p.
Introducing allopurinol to the medical treatment of Marfan syndrome : advantages, limitations, and potential extension to other aortopathies
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Cardiovascular drugs and therapy - ISSN 0920-3206- (2026) p.
Spontaneous spinal CSF leaks : a rare variant exome sequencing study and functional analysis
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The lancet neurology - ISSN 1474-4422-25:7 (2026) p. 664-672
Loeys-Dietz syndrome : 2026 updated care management primer
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Genetics in medicine - ISSN 1098-3600-28:7 (2026) p.
Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients
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European journal of human genetics - ISSN 1018-4813- (2026) p.