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24 results
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Von Hippel-Lindau syndrome. A pleomorphic condition.
Friedrich CA. Friedrich CA. Cancer. 1999 Dec 1;86(11 Suppl):2478-82. Cancer. 1999. PMID: 10630173 Review.
Genotype-phenotype correlation in von Hippel-Lindau syndrome.
Friedrich CA. Friedrich CA. Hum Mol Genet. 2001 Apr;10(7):763-7. doi: 10.1093/hmg/10.7.763. Hum Mol Genet. 2001. PMID: 11257110 Review.
Omodysplasia: an affected mother and son.
Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH. Venditti CP, et al. Among authors: friedrich ca. Am J Med Genet. 2002 Aug 1;111(2):169-77. doi: 10.1002/ajmg.10555. Am J Med Genet. 2002. PMID: 12210345 Review.
Management of lipid disorders.
Friedrich CA, Rader DJ. Friedrich CA, et al. Rheum Dis Clin North Am. 1999 Aug;25(3):507-20. doi: 10.1016/s0889-857x(05)70084-3. Rheum Dis Clin North Am. 1999. PMID: 10467626 Review.
Recent developments in ovarian cancer genetics.
Barnett GL, Friedrich CA. Barnett GL, et al. Among authors: friedrich ca. Curr Opin Obstet Gynecol. 2004 Feb;16(1):79-85. doi: 10.1097/00001703-200402000-00014. Curr Opin Obstet Gynecol. 2004. PMID: 15128012 Review.
The role of DNA testing in breast, ovarian, and colon cancers.
Friedrich CA. Friedrich CA. Am J Med Sci. 2003 Mar;325(3):120-4. doi: 10.1097/00000441-200303000-00004. Am J Med Sci. 2003. PMID: 12640287
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.
Cook C, Friedrich CA, Baliga R. Cook C, et al. Among authors: friedrich ca. Am J Kidney Dis. 2008 May;51(5):e25-8. doi: 10.1053/j.ajkd.2007.09.028. Epub 2008 Apr 2. Am J Kidney Dis. 2008. PMID: 18436078
Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma.
Majumdar S, Friedrich CA, Koch CA, Megason GC, Fratkin JD, Moll GW. Majumdar S, et al. Among authors: friedrich ca. Pediatr Blood Cancer. 2010 Mar;54(3):473-5. doi: 10.1002/pbc.22338. Pediatr Blood Cancer. 2010. PMID: 19927285
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: friedrich ca. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.
An internist's update on cholesterol management.
Holman HE, Hicks GS, Low AK, Bouldin MJ, Russell LD, Friedrich CA, Brown CA. Holman HE, et al. Among authors: friedrich ca. Am J Med Sci. 2002 Oct;324(4):189-95. doi: 10.1097/00000441-200210000-00005. Am J Med Sci. 2002. PMID: 12385491 Review.
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