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Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I. Moortgat S, et al. Among authors: boulanger s. Eur J Med Genet. 2018 Aug;61(8):442-450. doi: 10.1016/j.ejmg.2018.03.002. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510240 Review.
Discordant monozygotic twins for macrocephaly-capillary malformation.
Lederer D, Rack K, Boulanger S, Battisti O, Verellen-Dumoulin C. Lederer D, et al. Among authors: boulanger s. Am J Med Genet A. 2012 Jun;158A(6):1509-11. doi: 10.1002/ajmg.a.35382. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585741 Free article. No abstract available.
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.
Parijs I, Brison N, Vancoillie L, Baetens M, Blaumeiser B, Boulanger S, Désir J, Dimitrov B, Fieremans N, Janssens K, Janssens S, Marichal A, Menten B, Meunier C, Van Berkel K, Van Den Bogaert A, Devriendt K, Van Den Bogaert K, Vermeesch JR. Parijs I, et al. Among authors: boulanger s. Eur J Hum Genet. 2024 Jan;32(1):31-36. doi: 10.1038/s41431-023-01336-6. Epub 2023 Apr 7. Eur J Hum Genet. 2024. PMID: 37029316
59 results