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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Runke CK, Sanmann JN, Stavropoulos DJ, Strong E, Su M, Tayeh MK, Kokalj Vokac N, Thorland EC, Andersen E, Martin CL. Riggs ER, et al. Among authors: kokalj vokac n. Hum Mutat. 2018 Nov;39(11):1650-1659. doi: 10.1002/humu.23610. Hum Mutat. 2018. PMID: 30095202 Free PMC article.
A mosaic form of microphthalmia with linear skin defects.
Prepeluh N, Korpar B, Zagorac A, Zagradišnik B, Golub A, Kokalj Vokač N. Prepeluh N, et al. Among authors: kokalj vokac n. BMC Pediatr. 2018 Aug 1;18(1):254. doi: 10.1186/s12887-018-1234-4. BMC Pediatr. 2018. PMID: 30068298 Free PMC article.
Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.
Rudolf G, Tul N, Verdenik I, Volk M, Brezigar A, Kokalj Vokač N, Jeršin N, Prosenc B, Premru Sršen T, Peterlin B. Rudolf G, et al. Among authors: kokalj vokac n. PLoS One. 2017 Jun 30;12(6):e0180348. doi: 10.1371/journal.pone.0180348. eCollection 2017. PLoS One. 2017. PMID: 28665986 Free PMC article.
45 results