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1.
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Kidney Int
; 99(6): 1451-1458, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33309955
2.
Discrimination between human populations using a small number of differentially methylated CpG sites: a preliminary study using lymphoblastoid cell lines and peripheral blood samples of European and Chinese origin.
BMC Genomics
; 21(1): 706, 2020 Oct 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33045984
3.
CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking.
Am J Respir Cell Mol Biol
; 61(4): 440-449, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30916986
4.
Identification of Endogenous Control miRNAs for RT-qPCR in T-Cell Acute Lymphoblastic Leukemia.
Int J Mol Sci
; 19(10)2018 Sep 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-30241379
5.
Impact of SNPs on methylation readouts by Illumina Infinium HumanMethylation450 BeadChip Array: implications for comparative population studies.
BMC Genomics
; 16: 1003, 2015 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-26607064
6.
The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.
J Appl Genet
; 2023 Dec 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38110828
7.
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
J Appl Genet
; 63(4): 691-701, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35971028
8.
In vitro differentiation of ciliated cells in ALI-cultured human airway epithelium - The framework for functional studies on airway differentiation in ciliopathies.
Eur J Cell Biol
; 101(1): 151189, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34896770
9.
Correction to: The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.
J Appl Genet
; 2024 Apr 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38609674
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