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Xavier Estivill

Veröffentlichungen von Xavier Estivill zu Lopez-Bigas, Nuria ->
weitere Veröffentlichungen von Xavier Estivill:
Complexity in a monogenic disease (1996)
Reply to — Age of the ΔF508 cystic fibrosis mutation (1994)
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene (1994)
Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus (1988)
Cystic fibrosis in Finland: a molecular and genealogical study (1989)
Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate (1990)
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1 (1991)
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene (1993)
Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population (1993)
Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21 (1994)
Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation (1995)
A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene (1995)
Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1 (1995)
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France (1996)
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (2001)
Veröffentlichungen zu Lopez-Bigas, Nuria
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1
Grifa, Anna, Wagner, Carsten A., ... Mutations in GJB6 cause nonsyndromic autosomal dominant deafnessat DFNA3 locus
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 23, No. 1 (1999), p. 16-18
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1999
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2
Birney, Ewan, Stamatoyannopoulos, John A., ... Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 447, No. 7146 (2007), p. 799-816
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2007