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Natural history of rhizomelic chondrodysplasia punctata.
White AL, Modaff P, Holland-Morris F, Pauli RM. White AL, et al. Am J Med Genet A. 2003 May 1;118A(4):332-42. doi: 10.1002/ajmg.a.20009. Am J Med Genet A. 2003. PMID: 12687664
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Borovik L, et al. Am J Med Genet A. 2013 Aug;161A(8):2066-73. doi: 10.1002/ajmg.a.36019. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824842
Mutation analysis showed two novel mutations in the LBR gene: c.651_653 delinsTGATGAGAAA (p.Ile218Aspfs*19) and c.1757G > A (p.Arg586His). ...
Mutation analysis showed two novel mutations in the LBR gene: c.651_653 delinsTGATGAGAAA (p.Ile218Aspfs*19) and c.1757G > A (p
Airway malacia in children with achondroplasia.
Dessoffy KE, Modaff P, Pauli RM. Dessoffy KE, et al. Among authors: modaff p. Am J Med Genet A. 2014 Feb;164A(2):407-14. doi: 10.1002/ajmg.a.36303. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311312
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Hoover-Fong J, et al. Among authors: modaff p. Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Am J Hum Genet. 2014. PMID: 24387990 Free PMC article. No abstract available.
Syringomyelia in hereditary multiple exostosis.
Legare JM, Modaff P, Iskandar BJ, Pauli RM. Legare JM, et al. Among authors: modaff p. Am J Med Genet A. 2016 Nov;170(11):2956-2959. doi: 10.1002/ajmg.a.37854. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27480811
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