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Page 1
Elastin-driven genetic diseases.
Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28.
Matrix Biol. 2018.
PMID: 29501665
Free PMC article.
Review.
Words matter: The language of difference in human genetics.
Cho MK, Duque Lasio ML, Amarillo I, Mintz KT, Bennett RL, Brothers KB.
Cho MK, et al. Among authors: duque lasio ml.
Genet Med. 2023 Mar;25(3):100343. doi: 10.1016/j.gim.2022.11.011. Epub 2022 Dec 15.
Genet Med. 2023.
PMID: 36524987
Free PMC article.
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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, Bellacchio E, Dallabona C, Shinawi M.
Wongkittichote P, et al. Among authors: duque lasio ml.
Mol Genet Metab. 2023 Aug;139(4):107630. doi: 10.1016/j.ymgme.2023.107630. Epub 2023 Jun 22.
Mol Genet Metab. 2023.
PMID: 37392700
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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT.
Lines MA, et al. Among authors: duque lasio ml.
Eur J Hum Genet. 2021 Nov;29(11):1719-1724. doi: 10.1038/s41431-021-00956-0. Epub 2021 Sep 6.
Eur J Hum Genet. 2021.
PMID: 34483339
Free PMC article.
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Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants.
Kulkarni S, Abro B, Duque Lasio ML, Stoll J, Grange DK, He M.
Kulkarni S, et al. Among authors: duque lasio ml.
Pediatr Dev Pathol. 2020 May-Jun;23(3):235-239. doi: 10.1177/1093526619881541. Epub 2019 Oct 21.
Pediatr Dev Pathol. 2020.
PMID: 31635528
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