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ResearcherID: K-7480-2017
Scopus Author ID: 57190573513

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Employment (1)

Charles University in Prague: Prague, CZ

2015 to present
Employment
Source: Self-asserted source
Ivana Jedlickova

Works (4)

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Human Molecular Genetics
2016 | Journal article
DOI: 10.1093/hmg/ddw245
WOSUID:

WOS:000395806000014
Contributors: Hartmannova, Hana; Piherova, Lenka; Tauchmannova, Kate Rina; Kidd, Kendrah; Acott, Philip D.; Crocker, John F. S.; Oussedik, Youcef; Mallet, Marcel; Hodanova, Katerina; Stranecky, Viktor et al.
Source: Self-asserted source
Ivana Jedlickova via ResearcherID
grade
Preferred source (of 2)‎

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Neurology
2016 | Journal article
DOI: 10.1212/WNL.0000000000002943
WOSUID:

WOS:000382327000011
Contributors: Berkovic, Samuel F.; Staropoli, John F.; Carpenter, Stirling; Oliver, Karen L.; Kmoch, Stanislav; Anderson, Glenn W.; Damiano, John A.; Hildebrand, Michael S.; Sims, Katherine B.; Cotman, Susan L. et al.
Source: Self-asserted source
Ivana Jedlickova via ResearcherID
grade
Preferred source (of 2)‎

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

American Journal of Human Genetics
2016 | Journal article
DOI: 10.1016/j.ajhg.2016.05.028
WOSUID:

WOS:000381616600014
Contributors: Bolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; Van Hemelrijk, Christine; Schepers, Dorien; Vandeweyer, Geert; Hoischen, Alexander; Huyghe, Jeroen R.; Raes, Ann et al.
Source: Self-asserted source
Ivana Jedlickova via ResearcherID
grade
Preferred source (of 2)‎

Genetic and molecular basis of Adult-onset Neuronal Ceroid Lipofuscinoses (ANCL).

Molecular Biology of the Cell
2015 | Journal article
WOSUID:

WOS:000209928600356
Contributors: Jedlickova, I.; Stranecky, V.; Pristoupilova, A.; Hodanova, K.; Hartmannova, H.; Palmieri, L.; Houstek, J.; Baresova, V.; Zivna, M.; Hulkova, H. et al.
Source: Self-asserted source
Ivana Jedlickova via ResearcherID
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