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The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.
Disorders of sex development: Genetic characterization of a patient cohort.
García-Acero M, Moreno-Niño O, Suárez-Obando F, Molina M, Manotas MC, Prieto JC, Forero C, Céspedes C, Pérez J, Fernandez N, Rojas A. García-Acero M, et al. Mol Med Rep. 2020 Jan;21(1):97-106. doi: 10.3892/mmr.2019.10819. Epub 2019 Nov 12. Mol Med Rep. 2020. PMID: 31746433 Free PMC article. Clinical Trial.
46 results