Writzl K - Search Results

1

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

Likar T, Hasanhodžić M, Teran N, Maver A, Peterlin B, Writzl K. Likar T, et al. Among authors: writzl k. PLoS One. 2018 Jan 2;13(1):e0188578. doi: 10.1371/journal.pone.0188578. eCollection 2018. PLoS One. 2018. PMID: 29293505 Free PMC article.

2

Copy number of DAZ genes in Slovenian and Bosnian general population.

Writzl K, Sehić A, Terzić R, Peterlin B. Writzl K, et al. Coll Antropol. 2004;28 Suppl 2:283-9. Coll Antropol. 2004. PMID: 15571102

3

Copy number of DAZ genes in infertile men.

Writzl K, Zorn B, Peterlin B. Writzl K, et al. Fertil Steril. 2005 Nov;84(5):1522-5. doi: 10.1016/j.fertnstert.2005.06.021. Fertil Steril. 2005. PMID: 16275261

4

Preliminary analysis of AZFb region duplication by quantitative real-time PCR.

Writzl K, Zorn B, Peterlin B. Writzl K, et al. Hum Reprod. 2006 Mar;21(3):753-4. doi: 10.1093/humrep/dei380. Epub 2005 Nov 10. Hum Reprod. 2006. PMID: 16284063

5

Genital anomalies in a patient with Treacher Collins syndrome.

Writzl K, Jeruc J, Oldridge M, Peterlin B, Hennekam RC. Writzl K, et al. Am J Med Genet A. 2008 Aug 15;146A(16):2169-71. doi: 10.1002/ajmg.a.32404. Am J Med Genet A. 2008. PMID: 18627048 No abstract available.

6

Interstitial deletion 2p11.2-p12: further delineation.

Writzl K, Lovrecić L, Peterlin B. Writzl K, et al. Am J Med Genet A. 2009 Oct;149A(10):2324-6. doi: 10.1002/ajmg.a.33064. Am J Med Genet A. 2009. PMID: 19764038 No abstract available.

7

Premature ovarian failure with FMR1 premutation, X chromosome mosaicism and blood lymphocyte microchimerism.

Gersak K, Franic D, Veble A, Pajnic IZ, Teran N, Writzl K. Gersak K, et al. Among authors: writzl k. Climacteric. 2011 Apr;14(2):289-93. doi: 10.3109/13697137.2010.490604. Epub 2010 Jun 24. Climacteric. 2011. PMID: 20575655

8

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.

Maver A, Lovrecic L, Volk M, Rudolf G, Writzl K, Blatnik A, Hodzic A, Borut P. Maver A, et al. Among authors: writzl k. Genet Med. 2016 Nov;18(11):1102-1110. doi: 10.1038/gim.2016.22. Epub 2016 Mar 31. Genet Med. 2016. PMID: 27031083 Free article.

9

Clinical utility of array comparative genomic hybridisation in prenatal setting.

Lovrecic L, Remec ZI, Volk M, Rudolf G, Writzl K, Peterlin B. Lovrecic L, et al. Among authors: writzl k. BMC Med Genet. 2016 Nov 15;17(1):81. doi: 10.1186/s12881-016-0345-8. BMC Med Genet. 2016. PMID: 27846804 Free PMC article.

10

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Wambach JA, et al. Among authors: writzl k. Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28726266 Free PMC article.

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