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Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis.
Neurologia (Engl Ed). 2020 Sep;35(7):535-538. doi: 10.1016/j.nrl.2018.07.001. Epub 2019 Mar 10.
Neurologia (Engl Ed). 2020.
PMID: 30862385
Free article.
English, Spanish.
No abstract available.
Reproductive options in osteogenesis imperfecta. A two cases report in the same family with a new mutation in COL1A1.
Pavón de Paz I, Gil Fournier B, Navea Aguilera C, Gómez Rodríguez S, Ramiro León MS.
Pavón de Paz I, et al. Among authors: ramiro leon ms.
Endocrinol Nutr. 2016 Aug-Sep;63(7):367-9. doi: 10.1016/j.endonu.2016.04.002. Epub 2016 May 10.
Endocrinol Nutr. 2016.
PMID: 27178384
English, Spanish.
No abstract available.
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