Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lana Stavber"'
Autor:
Lana, Stavber, Maria Joao, Gaia, Tinka, Hovnik, Barbara, Jenko Bizjan, Maruša, Debeljak, Jernej, Kovač, Jasna Šuput, Omladič, Tadej, Battelino, Primož, Kotnik, Klemen, Dovč
Publikováno v:
Genes. 13(6)
Heterozygous variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ed35cadffb5758c119cc499092156ee
https://pubmed.ncbi.nlm.nih.gov/35741827
https://pubmed.ncbi.nlm.nih.gov/35741827
Autor:
Luca Lovrečić, M Avbelj Stefanija, Tine Tesovnik, Klemen Dovc, Lana Stavber, Tinka Hovnik, Jernej Kovač, Tadej Battelino, Sara Bertok, Primož Kotnik, Maruša Debeljak
Publikováno v:
European Journal of Endocrinology
Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency of pathogenic ACAN variants in selected individuals. Design The single-center cohort study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1d8ef10436c97d2944bb34d6dc93819
https://doi.org/10.1530/eje-19-0771
https://doi.org/10.1530/eje-19-0771
Autor:
Jera Stritar, Tadej Battelino, Lana Stavber, Tinka Hovnik, Katarina Trebušak Podkrajšek, Maja Ficko, Primož Kotnik
Publikováno v:
Genes, Vol 12, Iss 1546, p 1546 (2021)
Genes, vol. 12, no. 10, 1546, 2021.
Genes
Volume 12
Issue 10
Genes, vol. 12, no. 10, 1546, 2021.
Genes
Volume 12
Issue 10
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic shor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b027cbd376558908372551514fea1d0c
https://www.mdpi.com/2073-4425/12/10/1546
https://www.mdpi.com/2073-4425/12/10/1546
Autor:
Tadej Battelino, Marija Volk, Sara Bertok, Lana Stavber, Luca Lovrečić, Tinka Hovnik, Jernej Kovač
Publikováno v:
Molecular Cytogenetics
Background The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::760546991e0299652b4325bc2c7d504a
https://doi.org/10.1186/s13039-017-0312-x
https://doi.org/10.1186/s13039-017-0312-x