Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 1
Results: 12
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
- Published in:
- 2001
- By:
- Publication type:
- Erratum
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 20, doi. 10.1007/s004390000434
- By:
- Publication type:
- Article
The human olfactory subgenome: from sequence to structure and evolution.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 1, doi. 10.1007/s004390000436
- By:
- Publication type:
- Article
The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 55, doi. 10.1007/s004390000424
- By:
- Publication type:
- Article
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 43, doi. 10.1007/s004390000422
- By:
- Publication type:
- Article
Human type I hair keratin pseudogene ϕhHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 37, doi. 10.1007/s004390000439
- By:
- Publication type:
- Article
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 66, doi. 10.1007/s004390000432
- By:
- Publication type:
- Article
AFLP fingerprinting of the human genome.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 59, doi. 10.1007/s004390000438
- By:
- Publication type:
- Article
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 51, doi. 10.1007/s004390000440
- By:
- Publication type:
- Article
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 14, doi. 10.1007/s004390000435
- By:
- Publication type:
- Article
The Frequency of Inherited Disorders Database.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 72, doi. 10.1007/s004390000408
- By:
- Publication type:
- Article
Transmission ratio distortion in offspring of heterozygous female carriers of Robertsonian translocations.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 31, doi. 10.1007/s004390000437
- By:
- Publication type:
- Article