Suchergebnisse - "Audrézet, Marie-Pierre"

PubPharm (142)

1

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

enthalten in: Gastroenterology | 2024

von Schönauer, R. | Sierks, D. | Boerrigter, M. | +87

2

Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook

enthalten in: Gynecologie, obstetrique, fertilite & senologie | 2023

von Verebi, C. | Gravrand, V. | Pacault, M. | +7

3

AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma

enthalten in: Journal of the European Academy of Dermatology and Venereology : JEADV | 2023

von Sperelakis-Beedham, B. | Lopez, M. | Bourrat, E. | +18

4

Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease : a cross-sectional study from the Genkyst cohort

enthalten in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2022

von Lefèvre, S. | Audrézet, M. | Halimi, J. | +116

5

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

enthalten in: American journal of human genetics | 2022

von Lemoine, H. | Raud, L. | Foulquier, F. | +23

6

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases

enthalten in: Human mutation | 2022

von Jordan, P. | Dorval, G. | Arrondel, C. | +26

7

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

enthalten in: American journal of human genetics | 2022

von Senum, S. | Li, Y. | Benson, K. | +26

8

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

enthalten in: Human mutation | 2022

von Jordan, P. | Dorval, G. | Arrondel, C. | +26

9

Newborn screening for cystic fibrosis in France

enthalten in: Medecine sciences : M/S | 2021

von Munck, A. | Cheillan, D. | Audrezet, M. | +2

10

Non-Linear Pharmacokinetics of Oral Roscovitine (Seliciclib) in Cystic Fibrosis Patients Chronically Infected with Pseudomonas aeruginosa : A Study on Population Pharmacokinetics with Monte Carlo Simulations

enthalten in: Pharmaceutics | 2020

von Leven, C. | Schutz, S. | Audrezet, M. | +3

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