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Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.
Rinaldi B, Race V, Corveleyn A, Van Hoof E, Bauters M, Van Den Bogaert K, Denayer E, de Ravel T, Legius E, Baldewijns M, Aertsen M, Lewi L, De Catte L, Breckpot J, Devriendt K. Rinaldi B, et al. Among authors: devriendt k. Eur J Med Genet. 2020 May;63(5):103875. doi: 10.1016/j.ejmg.2020.103875. Epub 2020 Feb 10. Eur J Med Genet. 2020. PMID: 32058062
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.
Rodrigues Bento J, Feben C, Kempers M, van Rij M, Woiski M, Devriendt K, De Catte L, Baldewijns M, Alaerts M, Meester J, Verstraeten A, Hendson W, Loeys B. Rodrigues Bento J, et al. Among authors: devriendt k. Mol Genet Genomic Med. 2021 Oct;9(10):e1797. doi: 10.1002/mgg3.1797. Epub 2021 Sep 9. Mol Genet Genomic Med. 2021. PMID: 34499417 Free PMC article.
Unilateral Peters' anomaly in a patient with DiGeorge syndrome.
Casteels I, Devriendt K. Casteels I, et al. Among authors: devriendt k. J Pediatr Ophthalmol Strabismus. 2005 Sep-Oct;42(5):311-3. doi: 10.3928/0191-3913-20050901-17. J Pediatr Ophthalmol Strabismus. 2005. PMID: 16250223
Aetiology of congenital hearing loss: a cohort review of 569 subjects.
Lammens F, Verhaert N, Devriendt K, Debruyne F, Desloovere C. Lammens F, et al. Among authors: devriendt k. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1385-91. doi: 10.1016/j.ijporl.2013.06.002. Epub 2013 Jul 5. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23835162 Review.
591 results