Marfan Syndrome
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Musculoskeletal imaging-p. 1-10
Tonsillar hypertrophy in Goltz-Gorlin syndrome : case report and literature review
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B-ENT - ISSN 2684-4907-19:1 (2023) p. 64-66
Improved selection of zebrafish CRISPR editing by early next-generation sequencing based genotyping
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Scientific reports - ISSN 2045-2322-13:1 (2023) p. 1-13
Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation
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Stem cell research - ISSN 1873-5061-69 (2023) p. 1-5
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
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Nature medicine - ISSN 1078-8956-29 (2023) p. 679-688