Ofir R - Search Results

1

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: ofir r. 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.

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: ofir r. Eur J Hum Genet. 2004 Jan;12(1):38-43. doi: 10.1038/sj.ejhg.5201087. Eur J Hum Genet. 2004. PMID: 14523375

3

X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.

Bar-Yosef U, Ohana E, Hershkovitz E, Perlmuter S, Ofir R, Birk OS. Bar-Yosef U, et al. Among authors: ofir r. Am J Med Genet A. 2004 Feb 15;125A(1):45-8. doi: 10.1002/ajmg.a.20435. Am J Med Genet A. 2004. PMID: 14755465

4

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: ofir r. Hum Genet. 2004 Sep;115(4):302-9. doi: 10.1007/s00439-004-1154-2. Hum Genet. 2004. PMID: 15257456

5

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.

Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS. Narkis G, et al. Among authors: ofir r. Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266. Am J Med Genet A. 2004. PMID: 15378541

6

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS. Harel T, et al. Among authors: ofir r. Am J Med Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371. Am J Med Genet A. 2005. PMID: 15558753

7

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: ofir r. Nat Genet. 2006 Jul;38(7):749-51. doi: 10.1038/ng1813. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751772

8

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: ofir r. 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.

9

Genetics of arthrogryposis: linkage analysis approach.

Narkis G, Landau D, Manor E, Ofir R, Birk OS. Narkis G, et al. Among authors: ofir r. Clin Orthop Relat Res. 2007 Mar;456:30-5. doi: 10.1097/BLO.0b013e3180312bee. Clin Orthop Relat Res. 2007. PMID: 17195815

10

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. Cohen D, et al. Among authors: ofir r. Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13. doi: 10.1167/iovs.06-1019. Invest Ophthalmol Vis Sci. 2007. PMID: 17460281

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