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Results: 1-8 |
Results: 8
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
Authors: Chapman, KL Mortier, GR Chapman, K Loughlin, J Grant, ME Briggs, MD
Citation: Kl. Chapman et al., Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia, NAT GENET, 28(4), 2001, pp. 393-396
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes
Authors: Mortier, GR Chapman, K Leroy, JL Briggs, MD
Citation: Gr. Mortier et al., Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes, EUR J HUM G, 9(8), 2001, pp. 606-612
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
Unilateral semicircular canal aplasia in Goldenhar's syndrome
Authors: Lemmerling, MM Vanzieleghem, BD Mortier, GR Dhooge, IJ Kunnen, ME
Citation: Mm. Lemmerling et al., Unilateral semicircular canal aplasia in Goldenhar's syndrome, AM J NEUROR, 21(7), 2000, pp. 1334-1336
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ De Paepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder, J MED GENET, 37(4), 2000, pp. 263-271
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000)
Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ DePaepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000), J MED GENET, 37(10), 2000, pp. 815-815
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing
Authors: Messiaen, LM Callens, T Roux, KJ Mortier, GR De Paepe, A Abramowicz, M Pericak-Vance, MA Vance, JM Wallace, MR
Citation: Lm. Messiaen et al., Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing, GENET MED, 1(6), 1999, pp. 248-253
Identification of novel pro-alpha 2(IX) collagen gene mutations in two families with distinctive olgo-epiphyseal forms of multiple epiphyseal dysplasia
Authors: Holden, P Canty, EG Mortier, GR Zabel, B Spranger, J Carr, A Grant, ME Loughlin, JA Briggs, MD
Citation: P. Holden et al., Identification of novel pro-alpha 2(IX) collagen gene mutations in two families with distinctive olgo-epiphyseal forms of multiple epiphyseal dysplasia, AM J HU GEN, 65(1), 1999, pp. 31-38
Risultati: 1-8 |