Found: 29
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A 2.3?Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 586, doi. 10.1038/sj.ejhg.5201369
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- Article
Genetic Testing: From chromosomes to DNA, a revolution in prenatal diagnosis.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 517, doi. 10.1038/sj.ejhg.5201327
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- Article
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 528, doi. 10.1038/sj.ejhg.5201366
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- Article
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
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- Article
Haplotype structure of TNFRSF5-TNFSF5 (CD40-CD40L) and association analysis in systemic lupus erythematosus.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 669, doi. 10.1038/sj.ejhg.5201367
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- Article
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339
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- Article
Gene Therapy: The‘pro-sense’approach to Duchenne muscular dystrophy.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 518, doi. 10.1038/sj.ejhg.5201381
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- Article
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 623, doi. 10.1038/sj.ejhg.5201363
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- Article
Linkage disequilibrium patterns vary substantially among populations.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 677, doi. 10.1038/sj.ejhg.5201368
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- Article
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 649, doi. 10.1038/sj.ejhg.5201392
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- Article
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 617, doi. 10.1038/sj.ejhg.5201375
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- Article
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 547, doi. 10.1038/sj.ejhg.5201374
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- Publication type:
- Article
About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 570, doi. 10.1038/sj.ejhg.5201371
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- Article
Genetic professionals'reports of nondisclosure of genetic risk information within families.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 556, doi. 10.1038/sj.ejhg.5201394
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- Article
A y<sup>+</sup>LAT-1 mutant protein interferes with y<sup>+</sup>LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 628, doi. 10.1038/sj.ejhg.5201376
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- Article
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 592, doi. 10.1038/sj.ejhg.5201378
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- Article
Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.
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- 2005
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- Publication type:
- Letter
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
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- Article
Functional disomy of the Xq28 chromosome region.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 579, doi. 10.1038/sj.ejhg.5201384
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- Article
One-third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region.
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- 2005
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- Correction Notice
Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 635, doi. 10.1038/sj.ejhg.5201386
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- Article
Frequency of large CFTR gene rearrangements in Italian CF patients.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 687, doi. 10.1038/sj.ejhg.5201387
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- Article
Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 660, doi. 10.1038/sj.ejhg.5201388
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- Article
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 563, doi. 10.1038/sj.ejhg.5201391
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- Article
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 641, doi. 10.1038/sj.ejhg.5201393
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- Article
Twin study of genetic and aging effects on X chromosome inactivation.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 599, doi. 10.1038/sj.ejhg.5201398
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- Article
Genetic Epidemiology of Cancer: Relatively risky relatives.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 519, doi. 10.1038/sj.ejhg.5201395
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- Article
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
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- 2005
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- Publication type:
- Letter
Evolutionary Genetics: The human brain-adaptation at many levels.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 520, doi. 10.1038/sj.ejhg.5201401
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- Article