Suchergebnisse - "Pybus, Marc"

PubPharm (56)

1

Increased prevalence of Kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants

enthalten in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2024

von Furlano, M. | Pilco-Teran, M. | Pybus, M. | +15

2

Gut IgA Enhances Systemic IgG Responses to Pneumococcal Vaccines Through the Commensal Microbiota

enthalten in: bioRxiv.org | 2023

von Gutzeit, C. | Grasset, E. | Matthews, D. | +18

3

Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

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

von Domingo-Gallego, A. | Pybus, M. | Madariaga, L. | +12

4

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure

enthalten in: American journal of human genetics | 2022

von Riera-Escamilla, A. | Vockel, M. | Nagirnaja, L. | +24

5

Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease

enthalten in: Clinical kidney journal | 2022

von Naranjo, J. | Furlano, M. | Torres, F. | +7

6

Clinical utility of genetic testing in early-onset kidney disease : seven genes are the main players

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

von Domingo-Gallego, A. | Pybus, M. | Bullich, G. | +15

7

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome : A Cohort Study

enthalten in: American journal of kidney diseases : the official journal of the National Kidney Foundation | 2021

von Furlano, M. | Martínez, V. | Pybus, M. | +16

8

Next-generation sequencing in patients with familial FSGS : first report of collagen gene mutations in Tunisian patients

enthalten in: Journal of human genetics | 2021

von Ammar, S. | Kanoun, H. | Kammoun, K. | +10

9

Genetic dissection of spermatogenic arrest through exome analysis : clinical implications for the management of azoospermic men

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2020

von Krausz, C. | Riera-Escamilla, A. | Moreno-Mendoza, D. | +19

10

Human genomic regions with exceptionally high or low levels of population differentiation identified from 911 whole-genome sequences

enthalten in: bioRxiv.org | 2020

von Colonna, V. | Ayub, Q. | Chen, Y. | +6

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