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Results: 1-25 | 26-31 |
Results: 26-31/31
Homozygosity mapping to the USH2A locus in two isolated populations
Authors: Fagerheim, T Raeymaekers, P Merren, J Mani, K Jha, GK Baumbach, L Brox, V Breines, E Holdo, BE Holdo, A Tranebjaerg, L
Citation: T. Fagerheim et al., Homozygosity mapping to the USH2A locus in two isolated populations, J MED GENET, 36(2), 1999, pp. 144-147
Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM
Authors: Sun, C Henriksen, OA Tranebjaerg, L
Citation: C. Sun et al., Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM, CLIN GENET, 56(6), 1999, pp. 457-461
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
Authors: Annunen, S Korkko, J Czarny, M Warman, ML Brunner, HG Kaariainen, H Mulliken, JB Tranebjaerg, L Brooks, DG Cox, GF Cruysberg, JR Curtis, MA Davenport, SLH Friedrich, CA Kaitila, I Krawczynski, MR Latos-Bielenska, A Mukai, S Olsen, BR Shinno, N Somer, M Vikkula, M Zlotogora, J Prockop, DJ Ala-Kokko, L
Citation: S. Annunen et al., Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes, AM J HU GEN, 65(4), 1999, pp. 974-983
Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation
Authors: Plenge, RM Tranebjaerg, L Jensen, PKA Schwartz, C Willard, HF
Citation: Rm. Plenge et al., Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation, AM J HU GEN, 64(3), 1999, pp. 759-767
Spectrum of mutations in alpha-mannosidosis
Authors: Berg, T Riise, HMF Hansen, GN Malm, D Tranebjaerg, L Tollersrud, OK Nilssen, O
Citation: T. Berg et al., Spectrum of mutations in alpha-mannosidosis, AM J HU GEN, 64(1), 1999, pp. 77-88
A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores
Authors: Wandall, A Tranebjaerg, L Tommerup, N
Citation: A. Wandall et al., A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores, CHROMOSOMA, 107(6-7), 1998, pp. 359-365
Risultati: 1-25 | 26-31 |