Birk OS - Search Results

1

DEGS1 variant causes neurological disorder.

Dolgin V, Straussberg R, Xu R, Mileva I, Yogev Y, Khoury R, Konen O, Barhum Y, Zvulunov A, Mao C, Birk OS. Dolgin V, et al. Among authors: birk os. Eur J Hum Genet. 2019 Nov;27(11):1668-1676. doi: 10.1038/s41431-019-0444-z. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186544 Free PMC article.

2

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

3

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. Bar-Yosef U, et al. Among authors: birk os. Hum Genet. 2004 Sep;115(4):302-9. doi: 10.1007/s00439-004-1154-2. Hum Genet. 2004. PMID: 15257456

4

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.

Birnbaum RY, Zvulunov A, Hallel-Halevy D, Cagnano E, Finer G, Ofir R, Geiger D, Silberstein E, Feferman Y, Birk OS. Birnbaum RY, et al. Among authors: birk os. Nat Genet. 2006 Jul;38(7):749-51. doi: 10.1038/ng1813. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751772

5

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS. Khateeb S, et al. Among authors: birk os. Am J Hum Genet. 2006 Nov;79(5):942-8. doi: 10.1086/508572. Epub 2006 Sep 19. Am J Hum Genet. 2006. PMID: 17033970 Free PMC article.

6

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. Narkis G, et al. Among authors: birk os. Am J Hum Genet. 2007 Sep;81(3):530-9. doi: 10.1086/520771. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701898 Free PMC article.

7

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS. Barel O, et al. Among authors: birk os. Am J Hum Genet. 2008 May;82(5):1211-6. doi: 10.1016/j.ajhg.2008.03.020. Epub 2008 Apr 24. Am J Hum Genet. 2008. PMID: 18439546 Free PMC article.

8

Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.

Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS. Feldshtein M, et al. Among authors: birk os. Am J Hum Genet. 2010 Nov 12;87(5):713-20. doi: 10.1016/j.ajhg.2010.10.008. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035102 Free PMC article.

9

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.

10

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.

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