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Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen MØ, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA. Faergeman SL, et al. Among authors: andreasen l. Eur J Med Genet. 2021 Sep;64(9):104280. doi: 10.1016/j.ejmg.2021.104280. Epub 2021 Jul 3. Eur J Med Genet. 2021. PMID: 34229113
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.
Jeppesen LD, Hjortshøj TD, Hindkjær J, Hatt L, Petersen OB, Singh R, Schelde P, Andreasen L, Christensen R, Lildballe DL, Vogel I. Jeppesen LD, et al. Among authors: andreasen l. Front Genet. 2022 Mar 11;13:842092. doi: 10.3389/fgene.2022.842092. eCollection 2022. Front Genet. 2022. PMID: 35360877 Free PMC article.
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.
Jeppesen LD, Hatt L, Singh R, Schelde P, Ravn K, Toft CL, Laursen MB, Hedegaard J, Christensen IB, Nicolaisen BH, Andreasen L, Pedersen LH, Vogel I, Lildballe DL. Jeppesen LD, et al. Among authors: andreasen l. Front Genet. 2023 Sep 27;14:1188472. doi: 10.3389/fgene.2023.1188472. eCollection 2023. Front Genet. 2023. PMID: 37829280 Free PMC article.
111 results