William Bateson, human genetics and medicine.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 141, doi. 10.1007/s00439-005-0010-3
- Publication type:
- Article
Works matching IS 03406717 AND DT 2005 AND VI 118 AND IP 1
Results: 20
1
2
TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 87, doi. 10.1007/s00439-005-0017-9
- Publication type:
- Article
3
Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 107, doi. 10.1007/s00439-005-0018-8
- Publication type:
- Article
4
Dominantly inherited cutaneous small-vessel lymphocytic vasculitis maps to chromosome 6q26-q27.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 82, doi. 10.1007/s00439-005-0022-z
- Publication type:
- Article
5
Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 91, doi. 10.1007/s00439-005-0025-9
- Publication type:
- Article
6
Haplotypes within genes of beta-chemokines in 17q11 are associated with multiple sclerosis: a second phase study.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 67, doi. 10.1007/s00439-005-0003-2
- Publication type:
- Article
7
CTLA4 is differentially associated with autoimmune diseases in the Dutch population.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 58, doi. 10.1007/s00439-005-0006-z
- Publication type:
- Article
8
Meta-analysis of the association of CTLA-4 exon-1 +49A/G polymorphism with rheumatoid arthritis.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 123, doi. 10.1007/s00439-005-0033-9
- Publication type:
- Article
9
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 49, doi. 10.1007/s00439-005-0007-y
- Publication type:
- Article
10
Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 23, doi. 10.1007/s00439-005-0013-0
- Publication type:
- Article
11
Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 29, doi. 10.1007/s00439-005-0001-4
- Publication type:
- Article
12
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 133, doi. 10.1007/s00439-005-0029-5
- Publication type:
- Article
13
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 76, doi. 10.1007/s00439-005-0004-1
- Publication type:
- Article
14
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 45, doi. 10.1007/s00439-005-0011-2
- Publication type:
- Article
15
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 99, doi. 10.1007/s00439-005-0024-x
- Publication type:
- Article
16
Meprin β metalloprotease gene polymorphisms associated with diabetic nephropathy in the Pima Indians.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 12, doi. 10.1007/s00439-005-0019-7
- By:
- Publication type:
- Article
17
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 35, doi. 10.1007/s00439-005-0002-3
- Publication type:
- Article
18
Maternal lineages and Alzheimer disease risk in the Old Order Amish.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 115, doi. 10.1007/s00439-005-0032-x
- Publication type:
- Article
19
Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR).
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 138, doi. 10.1007/s00439-005-0005-0
- Publication type:
- Article
20
The Indian Genome Variation database (IGVdb): a project overview.
- Published in:
- Human Genetics, 2005, v. 118, n. 1, p. 1, doi. 10.1007/s00439-005-0009-9
- Publication type:
- Article