EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

Míreanna Comhchosúla

• Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction
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  Foilsithe: (2010)
• EMQN best practice guidelines for genetic testing in dystrophinopathies
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  Foilsithe: (2020)
• EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013
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  Foilsithe: (2014)
• DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
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  Foilsithe: (2015)
• EMQN Best Practice Guidelines for molecular genetic testing of SCAs
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  Foilsithe: (2010)