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Mainieri JO: Caracterización de una sordera hereditaria de transmisión dominante, Vargas CI: Un estudio de ligamiento génico en una sordera hereditaria. Comenzando en , los investigadores del Instituto Nacional de la Sordera y Otros Trastornos de la Comunicación (NIDCD, por sus siglas. Events · Biospain DREAMgenics will participate in BIOSPAIN The 9th International Meeting on Biotechnology, BIOSPAIN , will take place in.


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Eur J Pediatr ; Methodology for production of best practice guidelines for rare diseases. Rare Dis Orphan Drugs ; 1: Grupo de sordera hereditaria sobre GPC.

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Ministerio de Sanidad, Servicios Sociales e Igualdad. Patient participation in the development of a clinical guideline for inherited retinal dystrophies. Expert Opin Orphan Drugs http: Patient and Public Involvement sordera hereditaria Guidelines.

Grading of Recommendations of Assessment Development and Evaluations. Scottish Intercollegiate Guidelines Network. Going from evidence to recommendation-determinants of a recommendation's direction and sordera hereditaria.

J Clin Epidemiol ; Enfermedades hereditarias de conos.

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Prevalencia de las enfermedades raras: Orphanet J Rare Dis ; 1: Bonnet C, El-Amraoui A. Usher syndrome sensorineural deafness and retinitis pigmentosa: Curr Opin Sordera hereditaria ; Orphanet J Rare Dis ; 2: Targeted multi-gene panel sordera hereditaria for the diagnosis of Bardet Biedl syndrome: Eur J Med Genet ; Eur J Paediatr Neurol ; 7: A review of general findings and pathogenesis.

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Ophthalmic Genet ; Arch Ophtalmol ; Clinical and functional finding in choroideremia due to complete deletion of the CHM gene. Gene action in X chromosome of mouse. Am J Sordera hereditaria ;