Bald neuer Katalog: sichern Sie sich schon vorab Ihre persönlichen Merklisten im Nutzerkonto: Anleitung.

Volltext-Artikel, E-Books und Literaturhinweise aus dem EBSCO Discovery Service

"Artikel & mehr" berücksichtigt nur einen Teil der für die Bibliothek der Frankfurt UAS verfügbaren Datenbanken. Zur Übersicht in DBIS

Ergebnis verändern

einschränken: Volltextzugriff; Academic (peer-reviewed) journals
erweitern: Auch Volltexte der Artikel durchsuchen; Verwandte Themen suchen

Publikationstyp

Thema

erschienen in

Verlag

Geographic terms

Sprache

Datenbank

Erscheinungsjahr

Von:

Bis:

Treffer 1 - 25 von 367, Suchdauer: 1.5s

12 3 4 5 6 7 8 9 10 11 weiter »

1
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease

von Elhassan, Elhussein A. E. ; Collins, Kane E. ; Heneghan, Sophia ; et al.

Journal of Nephrology. 38(5):1457-1467
- Zum Volltext (via ReDI)
Merkliste

2
Common and rare variant analyses reveal genetic factors underlying idiopathic pulmonary fibrosis and its shared aetiology with severe COVID-19

von Kousathanas, Athanasios ; Odhams, Christopher A. ; Cook, James ; et al.

In eBioMedicine December 2025 122
- View full text via DOI
Merkliste

3
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

von Winterbottom, Jean ; Simms, Roslyn J. ; Caroli, Anna ; et al.

In American Journal of Kidney Diseases April 2025 85(4):465-476
- View full text via DOI
Merkliste

4
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

von Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; et al.

In Gastroenterology May 2024 166(5):902-914
- View full text via DOI
Merkliste

5
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

von Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; et al.

In Kidney International November 2023 104(5):995-1007
- View full text via DOI
Merkliste

6
Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing

von Omid Sadeghi-Alavijeh ; Melanie M.Y. Chan ; Gabriel T. Doctor ; et al.

The Journal of Clinical Investigation, Vol 134, Iss 19 (2024)

Schlagworte: Genetics; Nephrology; Medicine
- View full text via DOI
Merkliste

7
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

von Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; et al.

In Kidney International November 2023 104(5):975-984
- View full text via DOI
Merkliste

8
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

von Pochiero, Francesca ; Mari, Francesco ; Ramesh, Venkateswaran ; et al.

In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
- View full text via DOI
Merkliste

9
A Guide to General-Purpose Approximate Bayesian Computation Software

von Kousathanas, Athanasios ; Duchen, Pablo ; Wegmann, Daniel

Schlagworte: Statistics - Computation
- View full text via Arxiv
Merkliste

10
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

von Ingram, Stuart ; Taylor, Rachel ; Manson, Forbes ; et al.

In Ophthalmology January 2023 130(1):68-76
- View full text via DOI
Merkliste

11
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

von Pairo-Castineira, Erola ; Rawlik, Konrad ; Bretherick, Andrew D. ; et al.

Nature: International weekly journal of science. 617(7962):764-768
- Volltextverfügbarkeit prüfen (via ReDI)
Merkliste

12
Whole-genome sequencing reveals host factors underlying critical COVID-19

von Kousathanas, Athanasios ; Pairo-Castineira, Erola ; Rawlik, Konrad ; et al.

Nature: International weekly journal of science. 607(7917):97-103
- Volltextverfügbarkeit prüfen (via ReDI)
Merkliste

13
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

von Nickerson, Deborah ; Bamshad, Michael ; Leal, Suzanne ; et al.

In Genetics in Medicine June 2022 24(6):1261-1273
- View full text via DOI
Merkliste

14
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

von Olinger, Eric ; Wilson, Ian J. ; Orr, Sarah ; et al.

Genetics in Medicine Open, Vol. 2, p. 101834 (2024)
- View full text via BASE
Merkliste

15
Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing

von Sadeghi-Alavijeh, Omid ; Chan, Melanie My ; Doctor, Gabriel T ; et al.

The Journal of Clinical Investigation (JCI) , Article e181467. (2024)

Schlagworte: Bioinformatics; Genetic diseases; Genetics; Molecular genetics; Nephrology
- View full text via BASE
Merkliste

16
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

von Hyder, Zerin ; Calpena, Eduardo ; Pei, Yang ; et al.

In Genetics in Medicine December 2021 23(12):2360-2368
- View full text via DOI
Merkliste

17
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

von Neale, Benjamin M. ; Daly, Mark ; Ganna, Andrea ; et al.

In Cell Reports 16 November 2021 37(7)
- View full text via DOI
Merkliste

18
Cerebral visual impairment: genetic diagnoses and phenotypic associations

von Shaw, Emogene ; Flitcroft, Ian ; Bowman, Richard ; et al.

Schlagworte: Vision science
- View full text via BASE
Merkliste

19
Likelihood-free inference in high-dimensional models

von Kousathanas, Athanasios ; Leuenberger, Christoph ; Helfer, Jonas ; et al.

Schlagworte: Statistics - Methodology
- View full text via Arxiv
Merkliste

20
Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits

von Marion Patxot ; Daniel Trejo Banos ; Athanasios Kousathanas ; et al.

Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

Schlagworte: Science
- View full text via DOI
Merkliste

21
A second update on mapping the human genetic architecture of COVID-19

von Kanai, Masahiro ; Andrews, Shea J. ; Cordioli, Mattia ; et al.

Schlagworte: COVID-19
- View full text via BASE
Merkliste

22
Innate immune pathways act synergistically to constrain RNA virus evolution in Drosophila melanogaster

von Mongelli, Vanesa ; Lequime, Sebastian ; Kousathanas, Athanasios ; et al.

Nature Ecology & Evolution. 6(5):565-578
- Volltextverfügbarkeit prüfen (via ReDI)
Merkliste

23
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

von Reijns, Martin A. M. ; Parry, David A. ; Williams, Thomas C. ; et al.

Nature: International weekly journal of science. 602(7898):623-631
- Volltextverfügbarkeit prüfen (via ReDI)
Merkliste

24
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

von Fallerini, Chiara ; Picchiotti, Nicola ; Baldassarri, Margherita ; et al.

Human Genetics. 141(1):147-173
- Zum Volltext (via ReDI)
Merkliste

25
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

von Zou, Xueqing ; Koh, Gene Ching Chiek ; Nanda, Arjun Scott ; et al.

Nature Cancer. 2(6):643-657
- Volltextverfügbarkeit prüfen (via ReDI)
Merkliste

12 3 4 5 6 7 8 9 10 11 weiter »

Sie haben nicht gefunden, wonach Sie gesucht haben? Diese Services können Ihnen weiterhelfen.
Hilfe & Kontakt ǀ Fernleihe | Hilfe zur Fernleihe ǀ Literaturvorschlag| Literaturvorschlag