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5 results for author:"Korf B.R."Drop in Literature Citations

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Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

Leach N.T., Sun Y., Michaud S., Zheng Y., Ligon K.L., Ligon A.H., Sander T., Korf B.R., Lu W., Harris D.J. et al.

Am. J. Hum. Genet. 80:792-799(2007) · Mapped (6)

Deletion of the SLUG (SNAI2) gene results in human piebaldism.

Sanchez-Martin M., Perez-Losada J., Rodriguez-Garcia A., Gonzalez-Sanchez B., Korf B.R., Kuster W., Moss C., Spritz R.A., Sanchez-Garcia I.

Am. J. Med. Genet. A 122A:125-132(2003) · Mapped (2)

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)

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh D.J., Kum J.B., Lunetta K.L., Bennett M.J., Gorlin R.J., Ahmed S.F., Bodurtha J., Crowe C., Curtis M.A., Dasouki M. et al.

Hum. Mol. Genet. 8:1461-1472(1999) · UniProtKB (1)

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas W.A., Cunningham M.L., Howard T.D., Korf B.R., Lipson M.H., Grix A.W., Feingold M., Goldberg R., Borochowitz Z., Aleck K. et al.

Am. J. Hum. Genet. 62:1370-1380(1998) · Mapped (31)

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