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[A case of Noonan Syndrome with coeliac disease due to SOS1 mutation].
Carcavilla Urquí A, Santomé Collazo JL, Barrio Castellanos R, Ezquieta Zubicaray B. Carcavilla Urquí A, et al. Among authors: ezquieta zubicaray b. Med Clin (Barc). 2011 Nov 26;137(14):666-7. doi: 10.1016/j.medcli.2011.03.004. Epub 2011 Apr 27. Med Clin (Barc). 2011. PMID: 21524768 Spanish. No abstract available.
[De novo I172N mutation in a patient with 21-hydroxilase deficiency].
Díez López I, Rodríguez Estevez A, González Molina E, Ezquieta Zubicaray B. Díez López I, et al. Among authors: ezquieta zubicaray b. Med Clin (Barc). 2010 Jul 3;135(4):189-91. doi: 10.1016/j.medcli.2009.05.011. Epub 2009 Jul 2. Med Clin (Barc). 2010. PMID: 19576599 Spanish. No abstract available.
Newborn screening of congenital adrenal hyperplasia.
Dulín Iñiguez E, Ezquieta Zubicaray B. Dulín Iñiguez E, et al. Among authors: ezquieta zubicaray b. Endocrinol Diabetes Nutr (Engl Ed). 2018 Jan;65(1):1-4. doi: 10.1016/j.endinu.2017.11.001. Epub 2017 Dec 11. Endocrinol Diabetes Nutr (Engl Ed). 2018. PMID: 29241677 English, Spanish. No abstract available.
[Prenatal counselling of 21-hydroxylase deficiency].
Huidobro Fernández B, Roldán Martín MB, Rodríguez Arnao MD, Ezquieta Zubicaray B. Huidobro Fernández B, et al. Among authors: ezquieta zubicaray b. An Pediatr (Barc). 2012 Jan;76(1):51-2. doi: 10.1016/j.anpedi.2011.08.004. Epub 2011 Oct 20. An Pediatr (Barc). 2012. PMID: 22015055 Free article. Spanish. No abstract available.
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.
Ramos-Geldres TT, Dávila-Seijo P, Duat-Rodríguez A, Noguera-Morel L, Ezquieta-Zubicaray B, Rosón-López E, Hernández-Martín A, Torrelo-Fernández A. Ramos-Geldres TT, et al. Among authors: ezquieta zubicaray b. Actas Dermosifiliogr. 2015 May;106(4):e19-22. doi: 10.1016/ Epub 2014 Dec 24. Actas Dermosifiliogr. 2015. PMID: 25544017 Free article. English, Spanish.
12 results