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Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 3, p. 1, doi. 10.26508/lsa.202201649
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- Article
The Europeanness of the 2019 European Parliament elections and the mobilising power of European issues.
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- Politics, 2021, v. 41, n. 4, p. 451, doi. 10.1177/0263395721992930
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- Article
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.
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- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191503
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- Article
Fructose transport-deficient Staphylococcus aureus reveals important role of epithelial glucose transporters in limiting sugar-driven bacterial growth in airway surface liquid.
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- Cellular & Molecular Life Sciences, 2014, v. 71, n. 23, p. 4665, doi. 10.1007/s00018-014-1635-y
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- Article
Fructose transporter knockdown S. aureus reveals critical role of the airway epithelium in limiting ASL sugar accumulation and bacterial growth (897.4).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.897.4
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- Article
Unveiling systemic responses in kidney transplantation: interplay between the allograft transcriptome and serum proteins.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1398000
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- Article
FAT1 mutations cause a glomerulotubular nephropathy.
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- Nature Communications, 2016, v. 7, n. 2, p. 10822, doi. 10.1038/ncomms10822
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- Article
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
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- Nephrology Dialysis Transplantation, 2019, v. 34, n. 3, p. 474, doi. 10.1093/ndt/gfy050
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- Article
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
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- Nephrology Dialysis Transplantation, 2019, v. 34, n. 3, p. 485, doi. 10.1093/ndt/gfy028
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- Article
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04193-w
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- Article
More than counting pixels - perspectives on the importance of remote sensing training in ecology and conservation.
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- Remote Sensing in Ecology & Conservation, 2017, v. 3, n. 1, p. 38, doi. 10.1002/rse2.27
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- Article
Politisches Vertrauen in Europa im Kontext von Mehrebenenstruktur und Polarisierung: Konzeptionelle Überlegungen.
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- Integration (07205120), 2024, v. 47, n. 2, p. 154, doi. 10.5771/0720-5120-2024-2-154
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- Article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
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- Human Genetics, 2019, v. 138, n. 3, p. 211, doi. 10.1007/s00439-019-01978-x
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- Article
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
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- Human Genetics, 2013, v. 132, n. 8, p. 865, doi. 10.1007/s00439-013-1297-0
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- Article
Ecosystem service change caused by climatological and non‐climatological drivers: a Swiss case study.
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- Ecological Applications, 2019, v. 29, n. 4, p. N.PAG, doi. 10.1002/eap.1901
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- Article
Politicizing Europe in Elections to the European Parliament (1994–2019): The Crucial Role of Mainstream Parties.
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- Journal of Common Market Studies, 2021, v. 59, n. 5, p. 1124, doi. 10.1111/jcms.13168
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- Article
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
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- 2018
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- Publication type:
- journal article
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
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- 2017
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- Publication type:
- journal article
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
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- 2017
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- Publication type:
- journal article
Differential increase of CD34, KDR/CD34, CD133/CD34 and CD117/CD34 positive cells in peripheral blood of patients with acute myocardial infarction.
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- Clinical Research in Cardiology, 2007, v. 96, n. 9, p. 621, doi. 10.1007/s00392-007-0543-7
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- Article
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97046-4
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- Article
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
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- 2015
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- Publication type:
- journal article
Gene Mutation Analysis in Iranian Children With Nephronophthisis.
- Published in:
- Iranian Journal of Kidney Diseases, 2015, v. 9, n. 2, p. 119
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- Publication type:
- Article
Defects in t<sup>6</sup>A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11951-x
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- Article
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
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- Human Mutation, 2015, v. 36, n. 12, p. 1150, doi. 10.1002/humu.22859
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- Article
Responding to the crisis: Eurosceptic parties of the left and right and their changing position towards the European Union.
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- European Journal of Political Research, 2019, v. 58, n. 3, p. 797, doi. 10.1111/1475-6765.12321
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- Article
Political Behavior in the EU Multi-Level System.
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- Politics & Governance, 2020, v. 8, n. 1, p. 1, doi. 10.17645/pag.v8i1.2706
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- Article
Electoral Behaviour in a European Union under Stress.
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- Politics & Governance, 2020, v. 8, n. 1, p. 28, doi. 10.17645/pag.v8i1.2510
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- Article
It All Happens at Once: Understanding Electoral Behaviour in Second-Order Elections.
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- Politics & Governance, 2020, v. 8, n. 1, p. 6, doi. 10.17645/pag.v8i1.2513
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- Publication type:
- Article
Mutations in WDR4 as a new cause of Galloway–Mowat syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2460, doi. 10.1002/ajmg.a.40489
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- Article
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2697, doi. 10.1002/ajmg.a.38393
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- Article
Die neunten Direktwahlen zum Europäischen Parlament: Rahmenbedingungen, Parteien und Bürger in der Bundesrepublik Deutschland.
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- Zeitschrift für Parlamentsfragen, 2019, v. 50, n. 4, p. 715, doi. 10.5771/0340-1758-2019-4-715
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- Article