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Year | Number of Results |
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2009 | 1 |
2010 | 1 |
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Page 1
Expanding CEP290 mutational spectrum in ciliopathies.
Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025.
Am J Med Genet A. 2009.
PMID: 19764032
Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM.
Iannicelli M, et al.
Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239.
Hum Mutat. 2010.
PMID: 20232449
Free PMC article.
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Clinical and laboratory features of Macedonian children with OCRL mutations.
Tasic V, Lozanovski VJ, Korneti P, Ristoska-Bojkovska N, Sabolic-Avramovska V, Gucev Z, Ludwig M.
Tasic V, et al. Among authors: sabolic avramovska v.
Pediatr Nephrol. 2011 Apr;26(4):557-62. doi: 10.1007/s00467-010-1758-9. Epub 2011 Jan 20.
Pediatr Nephrol. 2011.
PMID: 21249396
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.
Travaglini L, et al.
Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.
Eur J Hum Genet. 2013.
PMID: 23386033
Free PMC article.
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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM.
Ferraris A, et al. Among authors: sabolic avramovska v.
Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75.
Orphanet J Rare Dis. 2013.
PMID: 23679990
Free PMC article.
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