SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 170, doi. 10.1007/s00439-003-0950-4
- By:
- Publication type:
- Article
Works matching IS 03406717 AND DT 2003 AND VI 113 AND IP 2
Results: 14
1
2
Methods in molecular biology, vol 204. Molecular cytogenetics: protocols and applications: Yao-Shan Fan (editor), Humana Press, ISBN 1-58829-006-9, Hardcover, $135.00.
- Published in:
- 2003
- By:
- Publication type:
- Book Review
3
David J. Galas, Stephen J. McCormack (eds): Genomic Technologies — Present and Future. Functional Genomics Series, Vol 1 (Series ed: Milton H. Saier Jr): Caister Academic Press, hardcover, 418 pp (ISBN 0-9542464-2-x) GBP 90.00.
- Published in:
- 2003
- By:
- Publication type:
- Book Review
4
Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 154, doi. 10.1007/s00439-003-0942-4
- By:
- Publication type:
- Article
5
ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 106, doi. 10.1007/s00439-003-0943-3
- By:
- Publication type:
- Article
6
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 118, doi. 10.1007/s00439-003-0946-0
- By:
- Publication type:
- Article
7
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 140, doi. 10.1007/s00439-003-0949-x
- By:
- Publication type:
- Article
8
Common 5′ β-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 123, doi. 10.1007/s00439-003-0954-0
- By:
- Publication type:
- Article
9
Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 188, doi. 10.1007/s00439-003-0955-z
- By:
- Publication type:
- Article
10
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 162, doi. 10.1007/s00439-003-0959-8
- By:
- Publication type:
- Article
11
Cis-acting variation in the expression of a high proportion of genes in human brain.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 149, doi. 10.1007/s00439-003-0956-y
- By:
- Publication type:
- Article
12
Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 178, doi. 10.1007/s00439-003-0958-9
- By:
- Publication type:
- Article
13
Bone dysplasias: an atlas of genetic disorders of skeletal development, 2nd edition: Jürgen W. Spranger, Paula Brill, Andrew Poznanski, Oxford University Press, ISBN 0 19 521474 9, Hardcover, £135.
- Published in:
- 2003
- By:
- Publication type:
- Book Review
14
Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 99, doi. 10.1007/s00439-003-0940-6
- By:
- Publication type:
- Article