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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

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/..

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

Autosomal dominant distal renal tubular acidosis in two ped..:

Guerra Hernández, Norma E. ; Gómez Tenorio, Circe ; Méndez Silva, Laura Paloma...
Nefrología (English Edition). 43 (2023) 4 - p. 484-490 , 2023

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

7

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/..

8

Acidosis tubular renal distal autosómica dominante en dos p..:

Guerra Hernández, Norma E. ; Gómez Tenorio, Circe ; Méndez Silva, Laura Paloma...
Nefrología. 43 (2023) 4 - p. 484-490 , 2023

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

9

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/..

10

Relationship between clinical phenotype and in vitro analys..:

Brazier, François ; Courbebaisse, Marie ; David, Amandine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9810644/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Relationship between clinical phenotype and in vitro analys..:

François Brazier ; Marie Courbebaisse ; Amandine David...
https://doi.org/10.1038/s41598-022-25995-5. , 2023

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

12

Long-Read Sequencing Identifies Novel Pathogenic Intronic V..:

Viering, Daan H.H.M ; Hureaux, Marguerite ; Neveling, Kornelia...
info:eu-repo/semantics/altIdentifier/doi/10.1681/ASN.2022050627. , 2023

Link: https://hal.science/hal-..

13

Long-Read Sequencing Identifies Novel Pathogenic Intronic V..:

Viering, Daan H.H.M ; Hureaux, Marguerite ; Neveling, Kornelia...
info:eu-repo/semantics/altIdentifier/doi/10.1681/ASN.2022050627. , 2023

Link: https://hal.science/hal-..

14

Autosomal dominant distal renal tubular acidosis in two ped..:

Norma E. Guerra Hernández ; Circe Gómez Tenorio ; Laura Paloma Méndez Silva...
http://www.sciencedirect.com/science/article/pii/S201325142300144X. , 2023

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

15

Relationship between clinical phenotype and in vitro analys..:

Courbebaisse, Marie ; David, Amandine ; Bergerat, David...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41598-022-25995-5. , 2023

Link: https://u-paris.hal.scie..

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