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7 results for author:"Gedde-Dahl T. Jr." in Literature citations

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APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen P.A., Heimdal K., Aaberg K., Eklo K., Eklo K., Ariansen S., Silye A., Fausa O., Aabakken L., Aretz S. et al.

J. Cancer Res. Clin. Oncol. 135:1463-1470(2009) · Mapped (10)

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.

Koss-Harnes D., Hoeyheim B., Anton-Lamprecht I., Gjesti A., Joergensen R.S., Jahnsen F.L., Olaisen B., Wiche G., Gedde-Dahl T. Jr.

J. Invest. Dermatol. 118:87-93(2002) · UniProtKB (1)

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magre J., Delepine M., Khallouf E., Gedde-Dahl T. Jr., Van Maldergem L., Sobel E., Papp J., Meier M., Megarbane A., Bachy A. et al.

Nat. Genet. 28:365-370(2001) · UniProtKB (1) · Mapped (2)

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

Nordal E.J., Mecklenbeck S., Hausser I., Skranes J., Bruckner-Tuderman L., Gedde-Dahl T. Jr.

Br. J. Dermatol. 144:151-157(2001) · UniProtKB (1)

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

Winberg J.-O., Hammami-Hauasli N., Nilssen O., Anton-Lamprecht I., Naylor S.L., Kerbacher K., Zimmermann M., Krajci P., Gedde-Dahl T. Jr., Bruckner-Tuderman L.

Hum. Mol. Genet. 6:1125-1135(1997) · UniProtKB (1)

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.

Uttam J., Hutton M.E., Coulombe P.A., Anton-Lamprecht I., Yu Q.-C., Gedde-Dahl T. Jr., Fine J.-D., Fuchs E.

Proc. Natl. Acad. Sci. U.S.A. 93:9079-9084(1996) · UniProtKB (1)

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.

Chan Y.-M., Cheng J., Gedde-Dahl T. Jr., Niemi K.M., Fuchs E.

J. Invest. Dermatol. 106:327-334(1996) · UniProtKB (1)

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