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Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Ann Hum Genet. 2018 Nov;82(6):425-436. doi: 10.1111/ahg.12272. Epub 2018 Jul 16.
Ann Hum Genet. 2018.
PMID: 30014477
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
Carrasco Salas P, Palma Milla C, Lezana Rosales JM, Benito C, Franco Freire S, López Siles J.
Carrasco Salas P, et al. Among authors: franco freire s.
Am J Med Genet A. 2016 Feb;170A(2):544-546. doi: 10.1002/ajmg.a.37440. Epub 2015 Oct 21.
Am J Med Genet A. 2016.
PMID: 26487424
No abstract available.
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[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy].
Carrasco Salas P, Palma Milla C, López Montiel J, Benito C, Franco Freire S, López Siles J.
Carrasco Salas P, et al. Among authors: franco freire s.
Med Clin (Barc). 2016 Feb 19;146(4):163-6. doi: 10.1016/j.medcli.2015.10.015. Epub 2015 Dec 10.
Med Clin (Barc). 2016.
PMID: 26683077
Spanish.
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[The KAT6B-related disorders: Burying Say-Barber-Biesecker-Young-Simpson and genitopatellar syndrome].
Peláez Cantero MJ, Ferrero Turrión J, Franco Freire S, Madrid Rodriguez A.
Peláez Cantero MJ, et al. Among authors: franco freire s.
An Pediatr (Engl Ed). 2021 Nov;95(5):384-386. doi: 10.1016/j.anpedi.2020.11.006. Epub 2021 Jan 18.
An Pediatr (Engl Ed). 2021.
PMID: 33478850
Free article.
Spanish.
No abstract available.
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