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Results: 1-7 |
Results: 7
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
Authors: De Baere, E Dixon, MJ Small, KW Jabs, EW Leroy, BP Devriendt, K Gillerot, Y Mortier, G Meire, F Van Maldergem, L Courtens, W Hjalgrim, H Huang, S Liebaers, I Van Regemorter, N Touraine, P Praphanphoj, V Verloes, A Udar, N Yellore, V Chalukya, M Yelchits, S De Paepe, A Kuttenn, F Fellous, M Veitia, R Messiaen, L
Citation: E. De Baere et al., Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation, HUM MOL GEN, 10(15), 2001, pp. 1591-1600
Imaging studies in the diagnostic workup of neonatal nasal obstruction
Authors: Vanzieleghem, BD Lemmerling, MM Vermeersch, HF Govaert, P Dhooge, I Meire, F Mortier, GR Leroy, J Kunnen, MF
Citation: Bd. Vanzieleghem et al., Imaging studies in the diagnostic workup of neonatal nasal obstruction, J COMPUT AS, 25(4), 2001, pp. 540-549
Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis
Authors: Schuster, V Zeitler, P Seregard, S Ozcelik, U Anadol, D Luchtman-Jones, L Meire, F Mingers, AM Schambeck, C Kreth, HW
Citation: V. Schuster et al., Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis, THROMB HAEM, 85(6), 2001, pp. 1004-1010
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
Authors: Seneca, S Verhelst, H De Meirleir, L Meire, F Groote, CCD Lissens, W Van Coster, R
Citation: S. Seneca et al., A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome, ARCH NEUROL, 58(7), 2001, pp. 1113-1118
Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis
Authors: Vanopdenbosch, L Dubois, B D'Hooghe, MB Meire, F Carton, H
Citation: L. Vanopdenbosch et al., Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis, J NEUROL, 247(7), 2000, pp. 535-543
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene
Authors: Assink, JJM de Backer, E ten Brink, JB Kohno, T de Jong, PTVM Bergen, AAB Meire, F
Citation: Jjm. Assink et al., Sorsby fundus dystrophy without a mutation in the TIMP-3 gene, BR J OPHTH, 84(7), 2000, pp. 682-686
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
Authors: Hanson, I Churchill, A Love, J Axton, R Moore, T Clarke, M Meire, F van Heyningen, V
Citation: I. Hanson et al., Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations, HUM MOL GEN, 8(2), 1999, pp. 165-172
Risultati: 1-7 |