Stern R - Search Results

1

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. Woods CG, et al. Among authors: stern r. Am J Hum Genet. 2006 Aug;79(2):402-8. doi: 10.1086/506332. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826533 Free PMC article.

2

Evolutionary Genetics: is brain evolution still continuing in modern humans?

Stern R, Woods CG. Stern R, et al. Eur J Hum Genet. 2006 Jul;14(7):799-800. doi: 10.1038/sj.ejhg.5201624. Epub 2006 Mar 29. Eur J Hum Genet. 2006. PMID: 16570071 No abstract available.

3

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. Woods CG, et al. Among authors: stern r. Am J Hum Genet. 2006 May;78(5):889-896. doi: 10.1086/503875. Epub 2006 Mar 21. Am J Hum Genet. 2006. PMID: 16642444 Free PMC article.

4

Two frameshift mutations in the cystic fibrosis gene.

Iannuzzi MC, Stern RC, Collins FS, Hon CT, Hidaka N, Strong T, Becker L, Drumm ML, White MB, Gerrard B, et al. Iannuzzi MC, et al. Among authors: stern rc. Am J Hum Genet. 1991 Feb;48(2):227-31. Am J Hum Genet. 1991. PMID: 1990834 Free PMC article.

5

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis.

Shuber AP, Skoletsky J, Stern R, Handelin BL. Shuber AP, et al. Among authors: stern r. Hum Mol Genet. 1993 Feb;2(2):153-8. doi: 10.1093/hmg/2.2.153. Hum Mol Genet. 1993. PMID: 7684636

6

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs.

Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. Richards B, et al. Among authors: stern rc. Hum Mol Genet. 1993 Feb;2(2):159-63. doi: 10.1093/hmg/2.2.159. Hum Mol Genet. 1993. PMID: 7684637

7

Linkage of DNA markers to cystic fibrosis in 26 families.

Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL. Spence JE, et al. Among authors: stern rc. Am J Hum Genet. 1986 Dec;39(6):729-34. Am J Hum Genet. 1986. PMID: 2879439 Free PMC article.

8

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS. Strong TV, et al. Among authors: stern rc. Hum Mutat. 1992;1(5):380-7. doi: 10.1002/humu.1380010506. Hum Mutat. 1992. PMID: 1284540 Free article.

9

Effective Acoustic Model-Based Beamforming Training for Static and Dynamic Hri Applications.

Luzanto A, Bohmer N, Mahu R, Alvarado E, Stern RM, Becerra Yoma N. Luzanto A, et al. Among authors: stern rm. Sensors (Basel). 2024 Oct 15;24(20):6644. doi: 10.3390/s24206644. Sensors (Basel). 2024. PMID: 39460124 Free PMC article.

10

Crystal structure, Chemical Bonding, and Magnetism of α-Fe₆Ga₅: How Local Interactions Shape the Structure and Properties of Intermetallic Compounds.

Khalaniya RA, Verchenko VY, Zonov EM, Stern R, Shevelkov AV. Khalaniya RA, et al. Among authors: stern r. Inorg Chem. 2024 Nov 4;63(44):21099-21109. doi: 10.1021/acs.inorgchem.4c03247. Epub 2024 Oct 24. Inorg Chem. 2024. PMID: 39445645

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