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Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 513, doi. 10.1002/humu.20185
By:
- Rooms, Liesbeth;
- Reyniers, Edwin;
- Kooy, R. Frank
Publication type:
Article
SCN1A mutations and epilepsy.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 535, doi. 10.1002/humu.20178
By:
- Mulley, John C.;
- Scheffer, Ingrid E.;
- Petrou, Steven;
- Dibbens, Leanne M.;
- Berkovic, Samuel F.;
- Harkin, Louise A.
Publication type:
Article
The spectrum of aldolase B ( ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 594, doi. 10.1002/humu.9343
By:
- Santer, René;
- Rischewski, Johannes;
- von Weihe, Michaela;
- Niederhaus, Marko;
- Schneppenheim, Sonja;
- Baerlocher, Kurt;
- Kohlschütter, Alfried;
- Muntau, Ania;
- Posselt, Hans-Georg;
- Steinmann, Beat;
- Schneppenheim, Reinhard
Publication type:
Article
Surveyor™ Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 575, doi. 10.1002/humu.20177
By:
- Bannwarth, Sylvie;
- Procaccio, Vincent;
- Paquis-Flucklinger, Veronique
Publication type:
Article
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 566, doi. 10.1002/humu.20184
By:
- Nichols, Kim E.;
- Houseknecht, Monisa D.;
- Godmilow, Lynn;
- Bunin, Greta;
- Shields, Carol;
- Meadows, Anna;
- Ganguly, Arupa
Publication type:
Article
Two ATM variants and breast cancer risk.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 594, doi. 10.1002/humu.9344
By:
- Thompson, Deborah;
- Antoniou, Antonis C.;
- Jenkins, Mark;
- Marsh, Anna;
- Chen, Xiaoqing;
- Wayne, Tierney;
- Tesoriero, Andrea;
- Milne, Roger;
- Spurdle, Amanda;
- Thorstenson, Yvonne;
- Southey, Melissa;
- Giles, Graham G.;
- Investigators, kConFab;
- Khanna, Kum Kum;
- Sambrook, Joseph;
- Oefner, Peter;
- Goldgar, David;
- Hopper, John L.;
- Easton, Doug;
- Chenevix-Trench, Georgia
Publication type:
Article
Application of genomewide SNP arrays for detection of simulated susceptibility loci.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 557, doi. 10.1002/humu.20174
By:
- Kulle, Bettina;
- Schirmer, Markus;
- Toliat, Mohammad R.;
- Suk, Anita;
- Becker, Christian;
- Tzvetkov, Mladen Vassilev;
- Brockmöller, Jürgen;
- Bickeböller, Heike;
- Hasenfuss, Gerd;
- Nürnberg, Peter;
- Wojnowski, Leszek
Publication type:
Article
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 593, doi. 10.1002/humu.9341
By:
- Birrell, Geoff W.;
- Kneebone, Katherine;
- Nefedov, Michael;
- Nefedova, Elena;
- Jartsev, M.N.;
- Mitsui, Midori;
- Gatti, Richard A.;
- Lavin, Martin F.
Publication type:
Article
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 593, doi. 10.1002/humu.9342
By:
- Kennedy, Jason;
- Jackson, Gail C.;
- Barker, Faye S.;
- Nundlall, Seema;
- Bella, Jordi;
- Wright, Michael J.;
- Mortier, Geert R.;
- Neas, Katherine;
- Thompson, Elizabeth;
- Elles, Rob;
- Briggs, Michael D.
Publication type:
Article
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 543, doi. 10.1002/humu.20172
By:
- Wattenhofer, Marie;
- Reymond, Alexandre;
- Falciola, Véronique;
- Charollais, Anne;
- Caille, Dorothée;
- Borel, Christelle;
- Lyle, Robert;
- Estivill, Xavier;
- Petersen, Michael B.;
- Meda, Paolo;
- Antonarakis, Stylianos E.
Publication type:
Article
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 525, doi. 10.1002/humu.20183
By:
- Bateman, John F.;
- Wilson, Richard;
- Freddi, Susanna;
- Lamandé, Shireen R.;
- Savarirayan, Ravi
Publication type:
Article
Functional analysis of natural mutations in two TWIST protein motifs.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 550, doi. 10.1002/humu.20176
By:
- Funato, Noriko;
- Twigg, Stephen R.F.;
- Higashihori, Norihisa;
- Ohyama, Kimie;
- Wall, Steven A.;
- Wilkie, Andrew O.M.;
- Nakamura, Masataka
Publication type:
Article
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 595, doi. 10.1002/humu.9345
By:
- Schulte, Claudia;
- Geisthoff, Urban;
- Lux, Andreas;
- Kupka, Susan;
- Zenner, Hans-Peter;
- Blin, Nikolaus;
- Pfister, Markus
Publication type:
Article
Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 583, doi. 10.1002/humu.20182
By:
- Schollen, Els;
- Dequeker, Elisabeth;
- McQuaid, Shirley;
- Vankeirsbilck, Bruno;
- Michils, Geneviève;
- Harvey, John;
- van den Akker, Eric;
- van Schooten, Ron;
- Clark, Zandra;
- Schrooten, Stephan;
- Matthijs, Gert
Publication type:
Article
On ubiquitin ligases and cancer.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 507, doi. 10.1002/humu.20175
By:
- Beckmann, Jacques S.;
- Maurer, Fabienne;
- Delorenzi, Mauro;
- Falquet, Laurent
Publication type:
Article

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