Birk OS - Search Results

1

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Poleg T, Proskorovski-Ohayon R, Dolgin V, Hadar N, Safran A, Agam N, Jean MM, Freund O, Gradstein L, Shelef I, Sadaka Y, Birk OS. Poleg T, et al. Among authors: birk os. Clin Genet. 2024 Nov 25. doi: 10.1111/cge.14653. Online ahead of print. Clin Genet. 2024. PMID: 39586739

2

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.

3

Coding exons function as tissue-specific enhancers of nearby genes.

Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N. Birnbaum RY, et al. Among authors: birk os. Genome Res. 2012 Jun;22(6):1059-68. doi: 10.1101/gr.133546.111. Epub 2012 Mar 22. Genome Res. 2012. PMID: 22442009 Free PMC article.

4

Integration of SNP genotyping confidence scores in IBD inference.

Markus B, Birk OS, Geiger D. Markus B, et al. Among authors: birk os. Bioinformatics. 2011 Oct 15;27(20):2880-7. doi: 10.1093/bioinformatics/btr486. Epub 2011 Aug 23. Bioinformatics. 2011. PMID: 21862568 Free PMC article.

5

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: birk os. 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

6

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.

7

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: birk os. Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13. doi: 10.1167/iovs.06-1019. Invest Ophthalmol Vis Sci. 2007. PMID: 17460281

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

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS. Mordechai S, et al. Among authors: birk os. Am J Hum Genet. 2011 Sep 9;89(3):438-45. doi: 10.1016/j.ajhg.2011.08.003. Epub 2011 Sep 1. Am J Hum Genet. 2011. PMID: 21885030 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

128 results

Search Page

Filters