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Page 1
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Among authors: castillo s. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
Knobloch syndrome in a patient from Chile.
Nakousi-Capurro N, Huserman J, Castillo S, Herrera L, Romero P, Pizarro F, Quezada C, Cea F. Nakousi-Capurro N, et al. Among authors: castillo s. Am J Med Genet A. 2020 Oct;182(10):2239-2242. doi: 10.1002/ajmg.a.61760. Epub 2020 Jul 22. Am J Med Genet A. 2020. PMID: 32700429
[GLUT-1 deficiency syndrome].
Zavala M, Castillo V, Gonzalez M, Castillo S. Zavala M, et al. Among authors: castillo s, castillo v. Rev Neurol. 2019 Aug 16;69(4):178-179. doi: 10.33588/rn.6904.2019126. Rev Neurol. 2019. PMID: 31334562 Free article. Review. Spanish.
[The cytogenetics of premature ovarian failure].
Castillo S, López F, Tobella L, Salazar S, Daher V. Castillo S, et al. Rev Chil Obstet Ginecol. 1992;57(5):341-5. Rev Chil Obstet Ginecol. 1992. PMID: 1342464 Spanish.
[Chromosome aberrations in gallbladder adenocarcinoma].
Sanz P, Calvo A, Tobella L, Nielsen E, Salazar S, Daher V, Castillo S, Molina G, López F, Morales B, et al. Sanz P, et al. Among authors: castillo s. Rev Med Chil. 1993 Nov;121(11):1342-3. Rev Med Chil. 1993. PMID: 8191147 Spanish. No abstract available.
[Chromosome anomaly and flow cytometry in gallbladder adenocarcinoma].
Sanz P, Calvo A, Tobella L, Salazar S, Daher V, Castillo S, Nielsen E, Smok G, Csendes A, Serra I. Sanz P, et al. Among authors: castillo s. Rev Med Chil. 1998 Nov;126(11):1301-10. Rev Med Chil. 1998. PMID: 10349172 Spanish. No abstract available.
478 results