Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Els M. R. De Leenheer"'
Publikováno v:
Genes, Vol 13, Iss 9, p 1571 (2022)
Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. Its main symptoms are high myopia, retinal detachment, joint hypermobility, early osteoarthritis, cleft palate, midfacial hypo
Externí odkaz:
https://doaj.org/article/9e1f7946e2ad467b9bef7179ce9ad0f6
Autor:
Elise De Cuyper, Frederic Acke, Annelies Keymeulen, Els M. R. De Leenheer, Helen Van Hoecke, Elizaveta Padalko, An Boudewyns, Annick Gilles, Marie Muylle, Rudolf Kuhweide, Liesbeth Royackers, Christian Desloovere, Margriet Verstreken, Isabelle Schatteman, Ingeborg Dhooge
Publikováno v:
JAMA otolaryngology, head and neck surgery
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
ImportanceWith a prevalence between 0.2% and 6.1% of all live births, congenital cytomegalovirus (cCMV) infection is a major cause of congenital nonhereditary sensorineural hearing loss. Despite the large amount of research on cCMV-related hearing lo
Publikováno v:
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. 279(7)
Most developed countries have implemented some form of universal newborn hearing screening program. Early identification and rehabilitation of congenital hearing loss is important in functional outcome, and the need to identify the cause of hearing i
Autor:
Freya K R, Swinnen, Jan W, Casselman, Els M R, De Leenheer, Cor W R J, Cremers, Ingeborg J M, Dhooge
Publikováno v:
The Laryngoscope. 123(8)
Osteogenesis imperfecta (OI) is an autosomal-dominant connective-tissue disorder, predominantly characterized by bone fragility. Conductive hearing loss develops in half of the OI patients and often progresses to mixed loss. Findings of computed tomo
Autor:
Freya K R, Swinnen, Els M R, De Leenheer, Paul J, Coucke, Cor W R J, Cremers, Ingeborg J M, Dhooge
Publikováno v:
The Laryngoscope. 119(6)
To provide data on the outcome of stapes surgery in patients with osteogenesis imperfecta (OI). The audiometric results of 15 ears (12 patients), in which a stapes operation was performed, are presented and compared with results from literature.Retro
Autor:
Anne M L C, Bischoff, Mirjam W J, Luijendijk, Patrick L M, Huygen, Gerard, van Duijnhoven, Els M R, De Leenheer, Grétel G, Oudesluijs, Lut, Van Laer, Frans P M, Cremers, Cor W R J, Cremers, Hannie, Kremer
Publikováno v:
Audiologyneuro-otology. 9(1)
A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of intron 7, leading to skipping of exon 8 in part of the transcripts. The mutation was found
Autor:
Els M R, De Leenheer, Diederick A, van Zuijlen, Lut, Van Laer, Guy, Van Camp, Patrick L M, Huygen, Egbert H, Huizing, Cor W R J, Cremers
Publikováno v:
Advances in oto-rhino-laryngology. 61
Autor:
Els M R, De Leenheer, Patrick L M, Huygen, Sigrid, Wayne, Margriet, Verstreken, Frank, Declau, Guy, Van Camp, Paul H, Van de Heyning, Richard J H, Smith, Cor W R J, Cremers
Publikováno v:
Advances in oto-rhino-laryngology. 61
Autor:
Els M R, De Leenheer, Robbert J H, Ensink, Henricus P M, Kunst, Henri A M, Marres, Zohreh, Talebizadeh, Frank, Declau, Shelley D, Smith, Shin-ichi, Usami, Paul H, Van de Heyning, Guy, Van Camp, Patrick L M, Huygen, Cor W R J, Cremers
Publikováno v:
Advances in oto-rhino-laryngology. 61
Autor:
Els M R, De Leenheer, Wyman T, McGuirt, Henricus P M, Kunst, Patrick L M, Huygen, Richard J H, Smith, Cor W R J, Cremers
Publikováno v:
Advances in oto-rhino-laryngology. 61