Lana Stavber

Most-cited papers

1. High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

   Lana Stavber, T. Hovnik, P. Kotnik, L. Lovrečić +7 more

   2019European Journal of Endocrinology32 citations Open access

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2. Heterozygous NPR2 Variants in Idiopathic Short Stature

   Lana Stavber, M. Gaia, T. Hovnik, Barbara Jenko Bizjan +6 more

   2022Genes14 citations Open access

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3. Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature

   Jera Stritar, Lana Stavber, Maja Ficko, P. Kotnik +3 more

   2021Genes4 citations Open access

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4. Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

   Lana Stavber, S. Bertok, J. Kovač, M. Volk +3 more

   2017Molecular Cytogenetics4 citations Open access

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5. Efficacy of growth hormone therapy in children with npr2 and acan gene variants: a comparative study

   Lana Stavber, K. Dovč, Maruša Debeljak, Omladic Jasna Suput +2 more

   2025Endocrine Abstracts1 citations

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6. Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant

   A. Kavčič, J. Avsenik, Karin Writzl, Lana Stavber +6 more

   2026American Journal of Medical Genetics. Part A0 citations

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7. The First Description of Large Pathogenic Deletion in ACAN Gene and Additional Cases with Novel Pathogenic ACAN Variants

   Lana Stavber, T. Hovnik, S. Avbelj, P. Kotnik +4 more

   20190 citations

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8. Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

   Lana Stavber, S. Bertok, J. Kovač, M. Volk +3 more

   2017Molecular Cytogenetics0 citations Open access

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