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  4. Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
Details

Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations

Journal
Journal of Applied Genetics
ISSN
1234-1983
2190-3883
Date Issued
2015
Author(s)
Lorena Santa María
Víctor Faundes
Bianca Curotto
Paulina Morales
Karla Morales
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Solange Aliaga
Ángela Pugin
María Angélica Alliende
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-84956642079
WoS ID
WOS:000369406200007
DOI
10.1007/s13353-015-0295-4
URL
https://investigadores.udd.cl/handle/123456789/3290
URL Institutional Repository
http://hdl.handle.net/11447/270
Subjects
intellectual disability

; 

global development delay

; 

subtelomeric rearrangements

; 

fluorescence in situ hybridisation

; 

multiplex ligation-dependent probe amplification
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