E-LIB Suche - Ergebnisse für: Gribouval, Olivier

1

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants ..:

Kachmar, Jessica ; Boyer, Olivia ; Lipska-Ziętkiewicz, Beata...
Kidney International Reports. 9 (2024) 4 - p. 973-981 , 2024

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

2

P135: X-linked Alport syndrome: From transcriptomic diagnos..:

Saei, Hassan ; Boisson, Marie ; Arrondel, Christelle...
Genetics in Medicine Open. 2 (2024) - p. 101032 , 2024

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

3

#382 Unexpected diagnoses of ADTKD-MUC1 with the help of VN..:

Kachmar, Jessica ; Saei, Hassan ; Morinière, Vincent...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

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

4

P168: MUC1 gene coding-VNTR alignment-free genotyping appro..:

Saei, Hassan ; Kachmar, Jessica ; Morinière, Vincent...
Genetics in Medicine Open. 2 (2024) - p. 101065 , 2024

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

5

A wave of deep intronic mutations in X-linked Alport syndro..:

Boisson, Marie ; Arrondel, Christelle ; Cagnard, Nicolas...
Kidney International. 104 (2023) 2 - p. 367-377 , 2023

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

6

Overcoming the challenges associated with identification of..:

Dirix, Marie ; Gribouval, Olivier ; Arrondel, Christelle...
Clinical Genetics. 103 (2023) 6 - p. 693-698 , 2023

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

7

VNtyper enables accurate alignment-free genotyping of MUC1 ..:

Saei, Hassan ; Morinière, Vincent ; Heidet, Laurence...
iScience. 26 (2023) 7 - p. 107171 , 2023

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

8

Human C-terminal CUBN variants associate with chronic prote..:

Bedin, Mathilda ; Boyer, Olivia ; Servais, Aude...
Journal of Clinical Investigation. 132 (2022) 11 - p. , 2022

Link: https://doi.org/10.1172/..

9

Pseudouridylation defect due toDKC1andNOP10mutations causes..:

Balogh, Eszter ; Chandler, Jennifer C. ; Varga, Máté...
Proceedings of the National Academy of Sciences. 117 (2020) 26 - p. 15137-15147 , 2020

Link: https://doi.org/10.1073/..

10

Pseudouridylation defect due to DKC1 and NOP10 mutations ca..:

Balogh, Eszter ; Chandler, Jennifer C. ; Varga, Máté...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 26 - p. 15137-15147 , 2020

Link: https://www.jstor.org/st..

11

Defects in t6A tRNA modification due to GON7 and YRDC mutat..:

Arrondel, Christelle ; Missoury, Sophia ; Snoek, Rozemarijn...
Nature Communications. 10 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

12

APOL1 risk genotype in European steroid-resistant nephrotic..:

Gribouval, Olivier ; Boyer, Olivia ; Knebelmann, Bertrand...
Nephrology Dialysis Transplantation. 34 (2018) 11 - p. 1885-1893 , 2018

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

13

A homozygous KAT2B variant modulates the clinical phenotype..:

Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara...
PLOS Genetics. 14 (2018) 5 - p. e1007386 , 2018

Link: https://doi.org/10.1371/..

14

Correction: A homozygous KAT2B variant modulates the clinic..:

Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara...
PLOS Genetics. 14 (2018) 10 - p. e1007748 , 2018

Link: https://doi.org/10.1371/..

15

Treatment and outcome of congenital nephrotic syndrome:

Bérody, Sandra ; Heidet, Laurence ; Gribouval, Olivier...
Nephrology Dialysis Transplantation. 34 (2018) 3 - p. 458-467 , 2018

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