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[The KAT6B-related disorders: Burying Say-Barber-Biesecker-Young-Simpson and genitopatellar syndrome].
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.
[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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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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Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C, Lezana Rosales JM, López Montiel J, Andrés Garrido LD, Sánchez Linares C, Carmona Tamajón S, Torres Fernández C, Sánchez González P, Franco Freire S, Benito López C, López Siles J.
Palma Milla C, et al. Among authors: franco freire s.
Ann Hum Genet. 2018 Nov;82(6):425-436. doi: 10.1111/ahg.12272. Epub 2018 Jul 16.
Ann Hum Genet. 2018.
PMID: 30014477
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