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Variable expressivity in a family with an aggrecanopathy.
Mol Genet Genomic Med. 2022 Jan;10(1):e1773. doi: 10.1002/mgg3.1773. Epub 2021 Dec 10.
Mol Genet Genomic Med. 2022.
PMID: 34894100
Free PMC article.
Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.
Basalom S, Fiscaletti M, Miranda V, Huber C, Couture G, Drouin R, Monceau É, Wavrant S, Dubé J, Mäkitie O, Cormier-Daire V, Campeau PM.
Basalom S, et al.
Bone Rep. 2021 Aug 25;15:101121. doi: 10.1016/j.bonr.2021.101121. eCollection 2021 Dec.
Bone Rep. 2021.
PMID: 34504906
Free PMC article.
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Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.
Basalom S, Trakadis Y, Shear R, Azouz ME, De Bie I.
Basalom S, et al.
Mol Genet Genomic Med. 2018 May;6(3):452-456. doi: 10.1002/mgg3.379. Epub 2018 Mar 11.
Mol Genet Genomic Med. 2018.
PMID: 29526034
Free PMC article.
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Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S, Rauch F.
Basalom S, et al.
Curr Osteoporos Rep. 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5.
Curr Osteoporos Rep. 2020.
PMID: 32162201
Review.
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No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B.
Ibrahim I, Scriver T, Basalom SA.
Ibrahim I, et al. Among authors: basalom sa.
Clin Case Rep. 2023 May 10;11(5):e7332. doi: 10.1002/ccr3.7332. eCollection 2023 May.
Clin Case Rep. 2023.
PMID: 37180334
Free PMC article.
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