Search results for "1689"

Funebres oraciones, que en las exequias pomposas, que hizieron a ... Doña María Luysa de Borbon Muger de ... Carlos Segundo ... la Vills de Alzira, y…

1689

Portada orlada Postil·les marginals Signatures: A-G4, H3

Canción que en celebridad del feliz cumpleaños de la Reyna Nuestra Señora

La salud de Europa considerada en estado de crisis : Advertencia para los aliados sobre las condiciones de paz, que oy propone la Francia / Traduccio…

1694

Sig. A-F8

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

2013

Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures. Design Prospective analysis. Patients 19 Caucasian patients with typical features of WS underwent stepwise investigation of PAX3 and MITF . When point mutations and small insertions/deletions were excluded by direct sequencing, copy number analysis by multiplex ligation-dependent probe …