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7 results for author:"Kroisel P.M."Drop in Literature Citations

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Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.

Hoerl G., Kroisel P.M., Wagner E., Tiran B., Petek E., Steyrer E.

Atherosclerosis 187:101-109(2006) · UniProtKB (1) · Mapped (2)

Cloning, genomic structure and expression profile of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes and its murine homolog.

Schwarzbraun T., Vincent J.B., Schumacher A., Geschwind D.H., Oliveira J., Windpassinger C., Ofner L., Ledinegg M.K., Kroisel P.M., Wagner K. et al.

Genomics 84:577-586(2004) · UniProtKB (2) · Mapped (3)

Human chromosome 7: DNA sequence and biology.

Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al.

Science 300:767-772(2003) · UniProtKB (658)

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

Petek E., Windpassinger C., Vincent J.B., Cheung J., Boright A.P., Scherer S.W., Kroisel P.M., Wagner K.

Am. J. Hum. Genet. 68:848-858(2001) · UniProtKB (2)

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.

Kumar-Singh S., De Jonghe C., Cruts M., Kleinert R., Wang R., Mercken M., De Strooper B., Vanderstichele H., Loefgren A., Vanderhoeven I. et al.

Hum. Mol. Genet. 9:2589-2598(2000) · UniProtKB (1)

Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene.

Constantinou-Deltas C.D., Bashiardes E., Patsalis P.C., Hadjimarcou M., Kroisel P.M., Ioannou P.A., Roses A.D., Lee J.E.

Cytogenet. Cell Genet. 75:230-233(1996) · UniProtKB (1)

TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12.

Haire R.N., Ohta Y., Lewis J.E., Fu S.M., Kroisel P.M., Litman G.W.

Hum. Mol. Genet. 3:897-901(1994) · UniProtKB (3)

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