Roggenbuck J - Search Results

1

Erratum to: The Long and Short of Genetic Counseling Letters: A Case-control Study.

Roggenbuck J, Temme R, Pond D, Baker J, Jarvis K, Liu M, Dugan S, Mendelsohn NJ. Roggenbuck J, et al. J Genet Couns. 2016 Feb;25(1):211. doi: 10.1007/s10897-015-9904-y. J Genet Couns. 2016. PMID: 26531311 No abstract available.

2

The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.

Roggenbuck J, Temme R, Pond D, Baker J, Jarvis K, Liu M, Dugan S, Mendelsohn NJ. Roggenbuck J, et al. J Genet Couns. 2015 Aug;24(4):645-53. doi: 10.1007/s10897-014-9792-6. Epub 2014 Dec 14. J Genet Couns. 2015. PMID: 25502223

3

Unique case of trisomy 2p24.3-pter with no associated monosomy.

Roggenbuck JA, Fink JM, Mendelsohn NJ. Roggenbuck JA, et al. Am J Med Genet. 2001 Jun 1;101(1):50-4. Am J Med Genet. 2001. PMID: 11343338

4

CF versus CRMS: diagnostic challenges in cystic fibrosis.

Temme R, Roggenbuck J, McNamara J. Temme R, et al. Among authors: roggenbuck j. Minn Med. 2012 Oct;95(10):42-4. Minn Med. 2012. PMID: 23193705

5

Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature.

Roggenbuck JA, Mendelsohn NJ, Tenenholz B, Ladda RL, Fink JM. Roggenbuck JA, et al. Am J Med Genet A. 2004 May 1;126A(4):398-402. doi: 10.1002/ajmg.a.20617. Am J Med Genet A. 2004. PMID: 15098238 Review.

6

Deletion at an 1q24 locus reveals a critical role of long noncoding RNA DNM3OS in skeletal development.

Yu TT, Xu QF, Li SY, Huang HJ, Dugan S, Shao L, Roggenbuck JA, Liu XT, Liu HZ, Hirsch BA, Yue S, Liu C, Cheng SY. Yu TT, et al. Cell Biosci. 2021 Mar 2;11(1):47. doi: 10.1186/s13578-021-00559-8. Cell Biosci. 2021. PMID: 33653390 Free PMC article.

7

Perception of genetic risk among genetic counselors.

Roggenbuck J, Olson JE, Sellers TA, Ludowese C. Roggenbuck J, et al. J Genet Couns. 2000 Feb;9(1):47-59. doi: 10.1023/a:1009481123596. J Genet Couns. 2000. PMID: 12530454

8

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.

Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR. Macaya D, et al. Among authors: roggenbuck j. Am J Med Genet A. 2009 Aug;149A(8):1624-7. doi: 10.1002/ajmg.a.32834. Am J Med Genet A. 2009. PMID: 19572402

9

FAM20A mutations associated with enamel renal syndrome.

Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC. Wang SK, et al. Among authors: roggenbuck ja. J Dent Res. 2014 Jan;93(1):42-8. doi: 10.1177/0022034513512653. Epub 2013 Nov 6. J Dent Res. 2014. PMID: 24196488 Free PMC article.

10

High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample.

Ehrlich M, Tsien F, Herrera D, Blackman V, Roggenbuck J, Tuck-Muller CM. Ehrlich M, et al. Among authors: roggenbuck j. J Med Genet. 2001 Dec;38(12):882-4. doi: 10.1136/jmg.38.12.882. J Med Genet. 2001. PMID: 11768395 Free PMC article. No abstract available.

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