PubRank

Els M R De Leenheer

Author PubWeight™ 9.57‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. Hum Mutat 2002 1.13
2 A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol 2003 1.12
3 Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol Neurotol 2005 0.94
4 Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis 2012 0.87
5 Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet J Rare Dis 2011 0.85
6 Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. Laryngoscope 2009 0.84
7 Stickler syndrome type I and Stapes ankylosis. Int J Pediatr Otorhinolaryngol 2004 0.80
8 A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. Arch Otolaryngol Head Neck Surg 2004 0.80
9 Association between bone mineral density and hearing loss in osteogenesis imperfecta. Laryngoscope 2012 0.78
10 Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation. Otol Neurotol 2012 0.77
11 Speech outcome regarding overall intelligibility, articulation, resonance and voice in Flemish children a year after pharyngeal flap surgery. A pilot study. Folia Phoniatr Logop 2008 0.77
12 The phenotype of the first otosclerosis family linked to OTSC5. Otol Neurotol 2006 0.75
13 Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears. Audiol Neurootol 2012 0.75
14 Temporal bone imaging in osteogenesis imperfecta patients with hearing loss. Laryngoscope 2013 0.75
15 Further delineation of the DFNA5 phenotype: results of speech recognition tests. Ann Otol Rhinol Laryngol 2002 0.75