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Identification of six new Gaucher disease mutations.
Beutler E, Gelbart T, West C. Beutler E, et al. Genomics. 1993 Jan;15(1):203-5. doi: 10.1006/geno.1993.1035. Genomics. 1993. PMID: 8432537
Electrophoresis of glucocerebrosidase from normal and Gaucher disease fibroblasts.
Dale GL, Gudas J, Woloszyn W, Beutler E. Dale GL, et al. Among authors: beutler e. Am J Hum Genet. 1979 Jul;31(4):518-21. Am J Hum Genet. 1979. PMID: 484554 Free PMC article.
Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
Glenn D, Gelbart T, Beutler E. Glenn D, et al. Among authors: beutler e. Hum Genet. 1994 Jun;93(6):635-8. doi: 10.1007/BF00201562. Hum Genet. 1994. PMID: 8005587
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. Zimran A, et al. Among authors: beutler e. Am J Hum Genet. 1991 Oct;49(4):855-9. Am J Hum Genet. 1991. PMID: 1897529 Free PMC article.
The origin of glucose-6-phosphate-dehydrogenase (G6PD) polymorphisms in African-Americans.
Kay AC, Kuhl W, Prchal J, Beutler E. Kay AC, et al. Among authors: beutler e. Am J Hum Genet. 1992 Feb;50(2):394-8. Am J Hum Genet. 1992. PMID: 1734718 Free PMC article.
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.
le Coutre P, Demina A, Beutler E, Beck M, Petrides PE. le Coutre P, et al. Among authors: beutler e. Hum Genet. 1997 Jun;99(6):816-21. doi: 10.1007/s004390050454. Hum Genet. 1997. PMID: 9187679
The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.
Flanagan JM, Rhodes M, Wilson M, Beutler E. Flanagan JM, et al. Among authors: beutler e. Br J Haematol. 2006 Jul;134(2):233-7. doi: 10.1111/j.1365-2141.2006.06143.x. Epub 2006 Jun 1. Br J Haematol. 2006. PMID: 16740138
Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
Lee PL, Halloran C, Trevino R, Felitti V, Beutler E. Lee PL, et al. Among authors: beutler e. Br J Haematol. 2001 Nov;115(2):329-33. doi: 10.1046/j.1365-2141.2001.03096.x. Br J Haematol. 2001. PMID: 11703331
Enzyme replacement in Gaucher disease.
Beutler E. Beutler E. PLoS Med. 2004 Nov;1(2):e21. doi: 10.1371/journal.pmed.0010021. Epub 2004 Nov 30. PLoS Med. 2004. PMID: 15578103 Free PMC article. Review.
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.
Lee PL, Barton JC, Brandhagen D, Beutler E. Lee PL, et al. Among authors: beutler e. Br J Haematol. 2004 Oct;127(2):224-9. doi: 10.1111/j.1365-2141.2004.05165.x. Br J Haematol. 2004. PMID: 15461631
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