E-LIB Suche - Ergebnisse für: Bullich Vilanova, Gemma

1

Systematic Collaborative Reanalysis of Genomic Data Improve..:

Bullich Vilanova, Gemma ; Matalonga, Leslie ; Pujadas, Montserrat...
European Commission 305444. , 2022

Link: https://ddd.uab.cat/reco..

2

Clinical and Genetic Features of Autosomal Dominant Alport ..:

Furlano, Monica ; Martínez, V ; Pybus, Marc...
Instituto de Salud Carlos III ETIC REDINREN RD16/0009. , 2021

Link: https://ddd.uab.cat/reco..

3

Molecular study of idiopathic nephrotic syndrome:

Bullich Vilanova, Gemma
9788449063886. , 2016

Link: http://hdl.handle.net/10..

4

Molecular study of idiopathic nephrotic syndrome:

Bullich Vilanova, Gemma ; Nogués, C. (Carme) ; Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
https://ddd.uab.cat/record/166046. , 2016

Link: https://ddd.uab.cat/reco..

5

Insight into response to mTOR inhibition when PKD1 and TSC2..:

Cabrera-López, Cristina ; Bullich Vilanova, Gemma ; Martí, Teresa...
Instituto de Salud Carlos III RETIC/REDinREN/RD06/0016. , 2015

Link: https://ddd.uab.cat/reco..

6

Targeted next-generation sequencing in steroid-resistant ne..:

Bullich Vilanova, Gemma ; Trujillano, Daniel ; Santín, Sheila...
Ministerio de Ciencia e Innovación SAF2008-00357. , 2014

Link: https://ddd.uab.cat/reco..

7

Diagnosis of autosomal dominant polycystic kidney disease u..:

Trujillano, Daniel ; Bullich Vilanova, Gemma ; Ossowski, Stephan...
Instituto de Salud Carlos III FIS/FEDER/PI11/00733. , 2014

Link: https://ddd.uab.cat/reco..

8

ClinPrior: an algorithm for diagnosis and novel gene discov..:

Schlüter, Agatha ; Vélez-Santamaría, Valentina ; Verdura, Edgard...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

9

Systematic Collaborative Reanalysis of Genomic Data Improve..:

Bullich, Gemma ; Matalonga, Leslie ; Pujadas, Montserrat...
The Journal of Molecular Diagnostics. 24 (2022) 5 - p. 529-542 , 2022

Link: https://doi.org/10.1016/..

10

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerati..:

Laurie, Steven ; Piscia, Davide ; Matalonga, Leslie...
Human Mutation. , 2022

Link: https://doi.org/10.1002/..

11

Clinical utility of genetic testing in early-onset kidney d..:

Domingo-Gallego, Andrea ; Pybus, Marc ; Bullich, Gemma...
Nephrology Dialysis Transplantation. 37 (2021) 4 - p. 687-696 , 2021

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

12

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous..:

Castilla-Vallmanya, Laura ; Gürsoy, Semra ; Giray-Bozkaya, Özlem...
International Journal of Molecular Sciences. 22 (2021) 4 - p. 1549 , 2021

Link: https://doi.org/10.3390/..

13

Clinical and Genetic Features of Autosomal Dominant Alport ..:

Furlano, Mónica ; Martínez, Victor ; Pybus, Marc...
American Journal of Kidney Diseases. 78 (2021) 4 - p. 560-570.e1 , 2021

Link: https://doi.org/10.1053/..

14

Improved Diagnosis of Rare Disease Patients through Systema..:

Matalonga, Leslie ; Laurie, Steven ; Papakonstantinou, Anastasios...
The Journal of Molecular Diagnostics. 22 (2020) 9 - p. 1205-1215 , 2020

Link: https://doi.org/10.1016/..

15

Nefropatía asociada a mutación del gen MYH9:

Furlano, Mónica ; Arlandis, Rosa ; Venegas, María del Prado...
Nefrología. 39 (2019) 2 - p. 133-140 , 2019

Link: https://doi.org/10.1016/..