E-LIB Suche - Ergebnisse für: Ranza, E.

1

P3987Targeted exome sequencing for mendelian cardiac disord..:

Fokstuen, S. ; Guipponi, M. ; Hammar, E.B....
European Heart Journal. 38 (2017) suppl_1 - p. , 2017

Link: https://doi.org/10.1093/..

2

Chondrodysplasia with multiple dislocations: comprehensive ..:

Ranza, E. ; Huber, C. ; Levin, N....
Clinical Genetics. 91 (2017) 6 - p. 868-880 , 2017

Link: https://doi.org/10.1111/..

3

Experience of a multidisciplinary task force with exome seq..:

Fokstuen, S. ; Makrythanasis, P. ; Hammar, E....
Human Genomics. 10 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

4

Growth Arrest Specific Gene 6 Protein Concentration in Cere..:

Sainaghi, P. P. ; Collimedaglia, L. ; Alciato, F....
Mediators of Inflammation. 2013 (2013) - p. 1-7 , 2013

Link: https://doi.org/10.1155/..

5

Radiation-induced perturbation of cell-to-cell signalling a..:

Mariotti, L. ; Facoetti, A. ; Bertolotti, A....
Radiation Protection Dosimetry. 143 (2010) 2-4 - p. 294-300 , 2010

Link: https://doi.org/10.1093/..

6

In-vitro effects of the tyrosine kinase inhibitor imatinib ..:

Ranza, E. ; Mazzini, G. ; Facoetti, A..
Journal of Neuro-Oncology. 96 (2009) 3 - p. 349-357 , 2009

Link: https://doi.org/10.1007/..

7

FOXI3 pathogenic variants cause one form of craniofacial mi..:

Mao, K ; Borel, C ; Ansar, M...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-37703-6. , 2023

Link: https://serval.unil.ch/n..

8

CoverageMaster: comprehensive CNV detection and visualizati..:

Rapti, M ; Zouaghi, Y ; Meylan, J...
info:eu-repo/semantics/altIdentifier/doi/10.1093/bib/bbac049. , 2022

Link: https://serval.unil.ch/n..

9

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, S ; Zhang, J ; Besnard, T...
https://discovery.ucl.ac.uk/id/eprint/10151159/2/Shozeb_Rare%20pathogenic%20variants%20in%20WNK3%20cause%20X-linked%20intellectual%20disability_AAM.pdf. , 2022

Link: https://discovery.ucl.ac..

10

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, H ; Hammer, TB ; Gardella, E...
https://discovery.ucl.ac.uk/id/eprint/10114570/3/NEXMIF_Figure1.pdf. , 2021

Link: https://discovery.ucl.ac..

11

Mutation-specific pathophysiological mechanisms define diff..:

den Hoed, J ; de Boer, E ; Voisin, N...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.01.007. , 2021

Link: https://push-zb.helmholt..

12

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:

Manole, A ; Efthymiou, S ; O'Connor, E...
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf. , 2020

Link: https://openaccess.sgul...

13

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:

Manole, A ; Efthymiou, S ; O'Connor, E...
info:eu-repo/semantics/altIdentifier/pmid/32738225. , 2020

Link: https://hdl.handle.net/1..

14

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:

Manole, A ; Efthymiou, S ; O'Connor, E...
https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf. , 2020

Link: https://discovery.ucl.ac..

15

Rehabilitative treatment of patients with covid-19 infectio..:

Petraglia F ; Chiavilli M ; Zaccaria B...
volume:91. , 2020

Link: http://hdl.handle.net/11..