Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki

Uvod. Razvojni zaostanek in displastične znake ugotavljamo pri 1-3% otrok. Molekularne citogenetske tehnike z visoko ločljivostjo (CGH- in SNP-mikromreže) so v zadnjih letih postale ključna preiskava v rutinski klinični diagnostiki pri preiskovancih z razvojnim zaostankom, displastičnimi znaki in dr...

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Bibliographic Details
Main Authors:	Bertok Sara, Žerjav Tanšek Mojca, Kotnik Primož, Battelino Tadej, Volk Marija, Pecile Vanna, Cleva Lisa, Gasparini Paolo, Kovač Jernej, Hovnik Tinka
Format:	Article
Language:	English
Published:	Sciendo 2015-03-01
Series:	Slovenian Journal of Public Health
Subjects:	copy number variations cgh-array snp-array fish variacije v številu kopij cgh-mikromreže snp-mikromreže
Online Access:	https://doi.org/10.1515/sjph-2015-0010

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