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RNDr. Nina Ondrušková Ph.D.
Akademický pracovník na 1. lékařská fakulta
19 publikací
Publikace
publication
Deficit fosfomanomutázy 2: klinická, biochemická a molekulárně-genetická charakteristika 22 pacientů diagnostikovaných v České republice
2018 |
1. lékařská fakulta
publication
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation
2023 |
1. lékařská fakulta
publication
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG
2023 |
1. lékařská fakulta
publication
Congenital disorders of glycosylation: Still "hot" in 2020
2021 |
1. lékařská fakulta
publication
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
2021 |
1. lékařská fakulta
publication
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
1. lékařská fakulta
publication
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation
2020 |
1. lékařská fakulta
publication
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
2019 |
1. lékařská fakulta
publication
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX
2018 |
1. lékařská fakulta
publication
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
2018 |
1. lékařská fakulta
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