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
- Publikationstyp
Publikationstyp- erschienen in
- Verlag
- Geographic terms
- Sprache
- 1
- 2
- 3
-
4
-
5
von Masoud, S. ; Wong, K. ; Pitcher, D. ; et al.
-
6
von Masoud, S. ; Wong, K. ; Pitcher, D. ; et al.
- 7
-
8
- 9
- 10
- 11
-
12
von Fitzgerald, T.W. ; Gerety, S.S. ; Jones, W.D. ; et al.
In The American Journal of Human Genetics 7 November 2019 105(5):933-946
-
13
von Deltas, C ; Papagregoriou, G ; Louka, SF ; et al.
Genes , 14 (9) , Article 1686. (2023)
Schlagworte: Alport syndrome; thin basement membrane nephropathy; focal segmental glomerulosclerosis; glomerular diseases; COL4 nephropathies; genetic modifiers
-
14
von Savige, J. ; Lipska-Zietkiewicz, B.S. ; Watson, E. ; et al.
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, 'Guidelines ....
Schlagworte: Alport syndrome; genetic testing; thin basement membrane nephropathy; collagen IV; digenic Alport syndrome; FSGS; kidney cysts; GENOTYPE-PHENOTYPE CORRELATIONS; GLOMERULAR-BASEMENT-MEMBRANE; KIDNEY-TRANSPLANTATION; DIGENIC INHERITANCE; RENAL-FAILURE; COL4A3/COL4A4 MUTATIONS; MICROSCOPIC HEMATURIA; FAMILIAL HEMATURIA; SEQUENCE VARIANTS; NATURAL-HISTORY
-
15
von Cuvertino S. ; Hartill V. ; Colyer A. ; et al.
Schlagworte: histone 3 lysine 4 methyltransferase; intrinsically disordered region; Kabuki syndrome; KMT2D; multiple congenital anomaly
- 16
-
17
von Martin HC ; Gardner EJ ; Samocha KE ; et al.
Nature Communications, December 2021
-
18
von 100,000 Genomes Project Pilot Investigators ; Smedley, D ; Smith, KR ; et al.
New England Journal of Medicine , 385 (20) pp. 1868-1880. (2021)
-
19
Schlagworte: Alport syndrome; Collagen IV gene; Next generation sequencing; Pathogenic variants
-
20
von Choufani S. ; Gibson W. T. ; Turinsky A. L. ; et al.
Schlagworte: DNA methylation signature; EED; intellectual disability; overgrowth syndrome; SUZ12; Abnormalities; Multiple; Adolescent; Adult; Child; Preschool; Cohort Studie; Congenital Hypothyroidism; Craniofacial Abnormalitie; Enhancer of Zeste Homolog 2 Protein; Female; Hand Deformities; Congenital; Human; Infant; Male; Mosaicism; Mutation; Missense; Polycomb Repressive Complex 2; Reproducibility of Result; Young Adult; DNA Methylation; Settore BIO/11 - Biologia Molecolare; Settore BIO/18 - Genetica
-
21
von Cuvertino, S ; Hartill, V ; Colyer, A ; et al.
Genetics in Medicine
- 22
-
23
von MacKenzie, Katherine ; de Graaf, Bianca ; Syrimis, A ; et al.
MacKenzie, K, de Graaf, B, Syrimis, A, Zhao, Y, Brosens, E, Verheijen - Mancini, G, Schot, R, Halley, D, Wilke, M, Vøllo, A, Flinter, F, Green, A, Mansour, S, Pilch, J, Stark, Z, Zamba-Papanicolaou, E, Christophidou-Anastasiadou, V, Hofstra, R, Jongbloed, JD, Nicolaou, N, Tanteles, GA, Brooks, A & Alves, M 2020, 'Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP', Human Mutation, vol. 41, no. 11, pp. 1906-1917. https://doi.org/10.1002/humu.24097
Schlagworte: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01
- 24
-
25
Hilfe & Kontakt ǀ Fernleihe | Hilfe zur Fernleihe ǀ Literaturvorschlag| Literaturvorschlag