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Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.

Acta chimica Slovenica

Hovnik T, Debeljak M, Tekavčič Pompe M, Bertok S, Battelino T, Stirn Kranjc B, Trebušak Podkrajšek K.
PMID: 34897530
Acta Chim Slov. 2021 Sep;68(3):683-692.

Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In...

Cite
Hovnik T, Debeljak M, Tekavčič Pompe M, et al. Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. Acta Chim Slov. 2021;68(3):683-692
Hovnik, T., Debeljak, M., Tekavčič Pompe, M., Bertok, S., Battelino, T., Stirn Kranjc, B., & Trebušak Podkrajšek, K. (2021). Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. Acta chimica Slovenica, 68(3), 683-692.
Hovnik, Tinka, et al. "Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism." Acta chimica Slovenica vol. 68,3 (2021): 683-692.
Hovnik T, Debeljak M, Tekavčič Pompe M, Bertok S, Battelino T, Stirn Kranjc B, Trebušak Podkrajšek K. Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. Acta Chim Slov. 2021 Sep;68(3):683-692. PMID: 34897530.
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Novel Insights Into Monogenic Obesity Syndrome Due to .

Frontiers in endocrinology

Drole Torkar A, Avbelj Stefanija M, Bertok S, Trebušak Podkrajšek K, Debeljak M, Stirn Kranjc B, Battelino T, Kotnik P.
PMID: 34211432
Front Endocrinol (Lausanne). 2021 Jun 15;12:581134. doi: 10.3389/fendo.2021.581134. eCollection 2021.

A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the

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Drole Torkar A, Avbelj Stefanija M, Bertok S, et al. Novel Insights Into Monogenic Obesity Syndrome Due to . Front Endocrinol (Lausanne). 2021;12:581134doi: 10.3389/fendo.2021.581134.
Drole Torkar, A., Avbelj Stefanija, M., Bertok, S., Trebušak Podkrajšek, K., Debeljak, M., Stirn Kranjc, B., Battelino, T., & Kotnik, P. (2021). Novel Insights Into Monogenic Obesity Syndrome Due to . Frontiers in endocrinology, 12581134. https://doi.org/10.3389/fendo.2021.581134
Drole Torkar, Ana, et al. "Novel Insights Into Monogenic Obesity Syndrome Due to ." Frontiers in endocrinology vol. 12 (2021): 581134. doi: https://doi.org/10.3389/fendo.2021.581134
Drole Torkar A, Avbelj Stefanija M, Bertok S, Trebušak Podkrajšek K, Debeljak M, Stirn Kranjc B, Battelino T, Kotnik P. Novel Insights Into Monogenic Obesity Syndrome Due to . Front Endocrinol (Lausanne). 2021 Jun 15;12:581134. doi: 10.3389/fendo.2021.581134. eCollection 2021. PMID: 34211432; PMCID: PMC8241224.
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