Birk OS - Search Results

1

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.

Hadar N, Schreiber R, Eskin-Schwartz M, Kristal E, Shubinsky G, Ling G, Cohen I, Geylis M, Nahum A, Yogev Y, Birk OS. Hadar N, et al. Among authors: birk os. Eur J Hum Genet. 2023 Oct;31(10):1101-1107. doi: 10.1038/s41431-022-01278-5. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599939

2

[An imported case of malaria resistant to chloroquine].

Golinski M, Birk O, Sack J. Golinski M, et al. Harefuah. 1988 Sep;115(5-6):119-20. Harefuah. 1988. PMID: 3056791 Hebrew. No abstract available.

3

Identification of a stromal cell type characterized by the secretion of a soluble integrin-binding protein, MFG-E8, in mouse early gonadogenesis.

Kanai Y, Kanai-Azuma M, Tajima Y, Birk OS, Hayashi Y, Sanai Y. Kanai Y, et al. Among authors: birk os. Mech Dev. 2000 Sep;96(2):223-7. doi: 10.1016/s0925-4773(00)00397-x. Mech Dev. 2000. PMID: 10960788 Free article.

4

The LIM homeobox gene Lhx9 is essential for mouse gonad formation.

Birk OS, Casiano DE, Wassif CA, Cogliati T, Zhao L, Zhao Y, Grinberg A, Huang S, Kreidberg JA, Parker KL, Porter FD, Westphal H. Birk OS, et al. Nature. 2000 Feb 24;403(6772):909-13. doi: 10.1038/35002622. Nature. 2000. PMID: 10706291

5

Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.

Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Hershkovitz E, Miller WL. Tee MK, et al. J Clin Endocrinol Metab. 2013 Feb;98(2):713-20. doi: 10.1210/jc.2012-2828. Epub 2013 Jan 21. J Clin Endocrinol Metab. 2013. PMID: 23337730 Free PMC article.

6

T-cell autoimmunity in type 1 diabetes mellitus.

Birk OS, Cohen IR. Birk OS, et al. Curr Opin Immunol. 1993 Dec;5(6):903-9. doi: 10.1016/0952-7915(93)90104-z. Curr Opin Immunol. 1993. PMID: 8297523 Review.

7

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS. Harel T, et al. Among authors: birk os. Eur J Hum Genet. 2004 Jan;12(1):38-43. doi: 10.1038/sj.ejhg.5201087. Eur J Hum Genet. 2004. PMID: 14523375

8

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS. Feinstein M, et al. Among authors: birk os. Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092922 Free PMC article.

9

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS. Zolotushko J, et al. Among authors: birk os. Eur J Hum Genet. 2011 Sep;19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11. Eur J Hum Genet. 2011. PMID: 21559050 Free PMC article.

10

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

Romi H, Cohen I, Landau D, Alkrinawi S, Yerushalmi B, Hershkovitz R, Newman-Heiman N, Cutting GR, Ofir R, Sivan S, Birk OS. Romi H, et al. Among authors: birk os. Am J Hum Genet. 2012 May 4;90(5):893-9. doi: 10.1016/j.ajhg.2012.03.022. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521417 Free PMC article.

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