E-LIB Suche - Ergebnisse für: Vargas-Poussou, Rosa

1

The SLC6A18 transporter is most likely a Na-dependent glyci..:

Bankir, Lise ; Crambert, Gilles ; Vargas-Poussou, Rosa
Nephron. , 2024

Link: https://doi.org/10.1159/..

2

Hypomagnesaemia with varying degrees of extrarenal symptoms..:

Bosman, Willem ; Franken, Gijs A. C. ; de las Heras, Javier...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

3

Les grandes avancées en néphro-génétique pédiatrique:

Hureaux, Marguerite ; Heidet, Laurence ; Vargas-Poussou, Rosa.
médecine/sciences. 39 (2023) 3 - p. 234-245 , 2023

Link: https://doi.org/10.1051/..

4

#2568 LONG-READ SEQUENCING IDENTIFIES NOVEL PATHOGENIC INTR..:

Viering, Daan ; Hureaux, Marguerite ; Neveling, Kornelia...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

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

5

Clinical Findings and Genetic Analysis of Nine Mexican Fami..:

Hernández, Norma E. Guerra ; Pérez, Laura I. Escobar ; Aguilera, Dora...
Archives of Medical Research. 54 (2023) 6 - p. 102859 , 2023

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

6

Relationship between clinical phenotype and in vitro analys..:

Brazier, François ; Courbebaisse, Marie ; David, Amandine...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

7

Genetic basis of nephrogenic diabetes insipidus:

Hureaux, Marguerite ; Vargas-Poussou, Rosa
Molecular and Cellular Endocrinology. 560 (2023) - p. 111825 , 2023

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

8

Genetic Origin of Renal Tubular Acidosis:

, In: Renal Tubular Acidosis in Children,

Escobar-Pérez, Laura ; Vargas-Poussou, Rosa - p. 57-70 , 2022

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

9

How the diagnosis and the management of genetic renal phosp..:

Tostivint, Isabelle N. ; Araman, Rita G. ; Castiglione, Vincent...
Urolithiasis. 50 (2022) 3 - p. 319-331 , 2022

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

10

Possible role for rareTRPM7variants in patients with hypoma..:

Vargas-Poussou, Rosa ; Claverie-Martin, Felix ; Prot-Bertoye, Caroline...
Nephrology Dialysis Transplantation. 38 (2022) 3 - p. 679-690 , 2022

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

11

Parathyroid hormone and phosphate homeostasis in patients w..:

Verploegen, Maartje F A ; Vargas-Poussou, Rosa ; Walsh, Stephen B...
Nephrology Dialysis Transplantation. 37 (2022) 12 - p. 2474-2486 , 2022

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

12

Calcium pyrophosphate crystal deposition in a cohort of 57 ..:

Chotard, Emilie ; Blanchard, Anne ; Ostertag, Agnès...
Rheumatology. 61 (2021) 6 - p. 2494-2503 , 2021

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

13

The variety of genetic defects explains the phenotypic hete..:

Hureaux, Marguerite ; Mazurkiewicz, Stephani ; Boccio, Valerie..
Kidney International Reports. 6 (2021) 10 - p. 2639-2652 , 2021

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

14

Diagnosis and management of Bartter syndrome: executive sum..:

Konrad, Martin ; Nijenhuis, Tom ; Ariceta, Gema...
Kidney International. 99 (2021) 2 - p. 324-335 , 2021

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

15

When a maternal heterozygous mutation of the CYP24A1 gene l..:

Hureaux, Marguerite ; Chantot-Bastaraud, Sandra ; Cassinari, Kévin...
Molecular Cytogenetics. 14 (2021) 1 - p. , 2021

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