Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

279 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Among authors: schaffer aa. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.
Genetic linkage of hyper-IgE syndrome to chromosome 4.
Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Grimbacher B, et al. Among authors: schaffer aa. Am J Hum Genet. 1999 Sep;65(3):735-44. doi: 10.1086/302547. Am J Hum Genet. 1999. PMID: 10441580 Free PMC article.
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Among authors: schaffer aa. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.
279 results