Canki Klain N - Search Results

1

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.

Mercier B, Lissens W, Novelli G, Kalaydjieva L, de Arce M, Kapranov N, Canki Klain N, Estivill X, Palacio A, Cashman S, et al. Mercier B, et al. Among authors: canki klain n. J Med Genet. 1994 Sep;31(9):731-4. doi: 10.1136/jmg.31.9.731. J Med Genet. 1994. PMID: 7529319 Free PMC article.

2

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

Audrézet MP, Canki-Klain N, Mercier B, Bracar D, Verlingue C, Férec C. Audrézet MP, et al. Among authors: canki klain n. Hum Genet. 1994 Jun;93(6):659-62. doi: 10.1007/BF00201566. Hum Genet. 1994. PMID: 7516305

3

Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population.

Ravnik-Glavac M, Gasparini P, Peterlin B, Strukelj M, Glavac D, Canki-Klain N, Pignatti PF, Komel R. Ravnik-Glavac M, et al. Among authors: canki klain n. Ann Genet. 1992;35(2):85-8. Ann Genet. 1992. PMID: 1355957

4

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V. Piluso G, et al. Among authors: canki klain n. J Med Genet. 2005 Sep;42(9):686-93. doi: 10.1136/jmg.2004.028738. J Med Genet. 2005. PMID: 16141003 Free PMC article.

5

Prevalence of retinitis pigmentosa in Slovenia.

Peterlin B, Canki-Klain N, Morela V, Stirn B, Rainer S, Cerar V. Peterlin B, et al. Among authors: canki klain n. Clin Genet. 1992 Sep;42(3):122-3. doi: 10.1111/j.1399-0004.1992.tb03222.x. Clin Genet. 1992. PMID: 1395082

6

Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature.

Canki-Klain N, Stanescu V, Bebler P, Maroteaux P. Canki-Klain N, et al. Ann Genet. 1990;33(3):129-36. Ann Genet. 1990. PMID: 2288456 Review.

7

Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?

Canki-Klain N, Stanescu V, Stanescu R, Sinkovec J, Debevec M, Maroteaux P. Canki-Klain N, et al. Ann Genet. 1992;35(3):129-33. Ann Genet. 1992. PMID: 1466560

8

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J. Canki-Klain N, et al. Am J Med Genet A. 2004 Mar 1;125A(2):152-6. doi: 10.1002/ajmg.a.20408. Am J Med Genet A. 2004. PMID: 14981715 Review.

9

Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.

Milic A, Canki-Klain N. Milic A, et al. Among authors: canki klain n. Croat Med J. 2005 Aug;46(4):657-63. Croat Med J. 2005. PMID: 16100770 Free article.

10

Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.

Canki-Klain N, Récan D, Milicić D, Llense S, Leturcq F, Deburgrave N, Kaplan JC, Debevec M, Zurak N. Canki-Klain N, et al. Croat Med J. 2000 Dec;41(4):389-95. Croat Med J. 2000. PMID: 11063761 Free article.

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