Suchergebnisse - "Gitiaux, Cyril"

PubPharm (4)

1

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

enthalten in: Journal of medical genetics | 2022

von Laquerriere, A. | Jaber, D. | Abiusi, E. | +88

2

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

enthalten in: Journal of medical genetics | 2021

von Jaber, D. | Gitiaux, C. | Blesson, S. | +9

3

Cardiac valve involvement in ADAR-related type I interferonopathy

enthalten in: Journal of medical genetics | 2020

von Crow, Y. | Keshavan, N. | Barbet, J. | +12

4

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

enthalten in: Journal of medical genetics | 2017

von Schiff, M. | Roda, C. | Monin, M. | +43

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