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Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 10, 2005
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutationMartijn H Kemperman, Els M R De Leenheer, Patrick L M Huygen, et al.
International Urology and Nephrology|May 9, 2026
Exploring novel skin biomarkers related to pruritus in dialysis patientsThomas S van Lieshout, Shannah Bennett, Jop Vreeken, et al.
Investigative Ophthalmology & Visual Science|December 24, 2003
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16Janneke J C van Lith-Verhoeven, Carel B Hoyng, Bellinda van den Helm, et al.
The Journal of Allergy and Clinical Immunology|July 13, 2010
Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypesGráinne M O'Regan, Patrick M J H Kemperman, Aileen Sandilands, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 10, 2005
Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriersAnne M L C Bischoff, Patrick L M Huygen, Martijn H Kemperman, et al.
International Journal of Pediatric Otorhinolaryngology|January 20, 2005
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutationsRegie Lyn P Santos, Yurii S Aulchenko, Patrick L M Huygen, et al.
Archives of Otolaryngology--Head & Neck Surgery|September 15, 2001
Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCHS J Bom, E M De Leenheer, F X Lemaire, et al.
Human Molecular Genetics|February 5, 1999
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsY J de Kok, S J Bom, T M Brunt, et al.
The Journal of Allergy and Clinical Immunology|February 11, 2012
Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiencySanja Kezic, Gráinne M O'Regan, René Lutter, et al.
Scientific Reports|May 21, 2025
Treatment of overactive K<sub>ATP</sub> channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndromeLotte Kleinendorst, Sarah E Siegelaar, Helen I Roessler, et al.
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