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Page 1
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM. Swinnen FK, et al. Among authors: de leenheer em, de paepe am. Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88. Orphanet J Rare Dis. 2011. PMID: 22206639 Free PMC article.
The DFNA10 phenotype.
De Leenheer EM, Huygen PL, Wayne S, Smith RJ, Cremers CW. De Leenheer EM, et al. Ann Otol Rhinol Laryngol. 2001 Sep;110(9):861-6. doi: 10.1177/000348940111000910. Ann Otol Rhinol Laryngol. 2001. PMID: 11558763
DFNA2/KCNQ4 and its manifestations.
De Leenheer EM, Ensink RJ, Kunst HP, Marres HA, Talebizadeh Z, Declau F, Smith SD, Usami S, Van de Heyning PH, Van Camp G, Huygen PL, Cremers CW. De Leenheer EM, et al. Adv Otorhinolaryngol. 2002;61:41-6. doi: 10.1159/000066802. Adv Otorhinolaryngol. 2002. PMID: 12408061 No abstract available.
Clinical features of DFNA5.
De Leenheer EM, van Zuijlen DA, Van Laer L, Van Camp G, Huygen PL, Huizing EH, Cremers CW. De Leenheer EM, et al. Adv Otorhinolaryngol. 2002;61:53-9. doi: 10.1159/000066800. Adv Otorhinolaryngol. 2002. PMID: 12408063 No abstract available.
DFNA10/EYA4--the clinical picture.
De Leenheer EM, Huygen PL, Wayne S, Verstreken M, Declau F, Van Camp G, Van de Heyning PH, Smith RJ, Cremers CW. De Leenheer EM, et al. Adv Otorhinolaryngol. 2002;61:73-8. doi: 10.1159/000066807. Adv Otorhinolaryngol. 2002. PMID: 12408066 No abstract available.
The phenotype of DFNA13/COL11A2.
De Leenheer EM, McGuirt WT, Kunst HP, Huygen PL, Smith RJ, Cremers CW. De Leenheer EM, et al. Adv Otorhinolaryngol. 2002;61:85-91. doi: 10.1159/000066804. Adv Otorhinolaryngol. 2002. PMID: 12408068 No abstract available.
67 results