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Patrick L M Huygen Selected Research

Connexin 30

2/2005Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
7/2004Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.

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Patrick L M Huygen Research Topics

Disease

13Hearing Loss (Hearing Impairment)
01/2021 - 02/2003
2Sensorineural Hearing Loss
01/2016 - 04/2006
2Autosomal Dominant 11 Deafness
04/2006 - 07/2004
2Nonsyndromic Deafness
12/2005 - 02/2005
2Autosomal Recessive 12 Deafness
09/2004 - 02/2003
1MYH9-Related Disorders
01/2016
1Unilateral Hearing Loss
11/2015
1Waardenburg syndrome type 2
11/2015
1Turner Syndrome (Turner's Syndrome)
10/2014
1Cicatrix (Scar)
11/2008
1Noninsulin-dependent diabetes mellitus with deafness
09/2006
1Neurodegenerative Diseases (Neurodegenerative Disease)
04/2006
1Nail-Patella Syndrome (Syndrome, Nail-Patella)
08/2005
1Glaucoma
08/2005
1Usher Syndromes (Usher Syndrome)
07/2004
1type 1B Usher syndrome
07/2004
1Stroke (Strokes)
07/2004

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
05/2014 - 07/2004
3Connexin 26IBA
12/2005 - 07/2004
2Amino AcidsFDA Link
01/2016 - 06/2006
2Myosin VIIaIBA
04/2006 - 07/2004
2Connexin 30IBA
02/2005 - 07/2004
1IS 33IBA
01/2021
1Myosin Heavy Chains (Myosin Heavy Chain)IBA
01/2016
1Stem Cell FactorIBA
11/2015
1Oxandrolone (Anavar)FDA LinkGeneric
10/2014
1Muscle Proteins (Muscle Protein)IBA
05/2011
1RNA Splice SitesIBA
01/2011
1Nonsense Codon (Nonsense Mutation)IBA
04/2010
1Leu Transfer RNAIBA
09/2006
1AntigensIBA
04/2006
1Blood Coagulation Factors (Coagulation Factor)IBA
04/2006
1Transcription Factors (Transcription Factor)IBA
08/2005
1Retinaldehyde (Retinal)IBA
09/2004
1LipofuscinIBA
09/2004
1Myosin Type IIIBA
07/2004
1Adenosine Diphosphate (ADP)IBA
07/2004
1Myosins (Myosin)IBA
07/2004
1Adenosine Triphosphate (ATP)IBA
07/2004
1Cadherins (E-Cadherin)IBA
02/2003
1Glutamic Acid (Glutamate)FDA Link
02/2003
1CalciumIBA
02/2003

Therapy/Procedure

1Cochlear Implantation
03/2011
1Reoperation
11/2008