Daniel Danis

Daniel Danis

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Daniel Danis

Daniel Danis

Publications by authors named "Daniel Danis"

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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

BMC Med Genet 2019 05 17;20(1):84. Epub 2019 May 17.

Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0806-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525401PMC
May 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

Endocr Regul 2018 Apr;52(2):110-118

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.

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http://dx.doi.org/10.2478/enr-2018-0013DOI Listing
April 2018

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Seizure 2018 03 3;56:31-33. Epub 2018 Feb 3.

Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.01.020DOI Listing
March 2018

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

Diabetes Res Clin Pract 2017 Apr 16;126:144-150. Epub 2017 Feb 16.

DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Dubravska cesta 9, 845 05 Bratislava, Slovakia. Electronic address:

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http://dx.doi.org/10.1016/j.diabres.2017.02.014DOI Listing
April 2017

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Eur J Med Genet 2016 Sep 12;59(9):429-35. Epub 2016 Aug 12.

Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.08.005DOI Listing
September 2016