Suchergebnisse - "Legendre, Marie"

PubPharm (121)

1

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

enthalten in: Science (New York, N.Y.) | 2024

von Dodd, D. | Mechaussier, S. | Yeyati, P. | +81

2

High risk of lung cancer in surfactant-related gene variant carriers

enthalten in: The European respiratory journal | 2024

von Brudon, A. | Legendre, M. | Mageau, A. | +43

3

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

enthalten in: Respirology (Carlton, Vic.) | 2024

von Diesler, R. | Legendre, M. | Si-Mohamed, S. | +46

4

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia

enthalten in: Journal of medical genetics | 2024

von Thomas, L. | Cuisset, L. | Papon, J. | +19

5

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant

enthalten in: Neonatology | 2024

von Soreze, Y. | Nathan, N. | Jegard, J. | +6

6

The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network

enthalten in: Pediatric pulmonology | 2024

von Cassibba, J. | Epaud, R. | Berteloot, L. | +16

7

The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network

enthalten in: Pediatric Pulmonology | 2024

von Cassibba, J. | Epaud, R. | Berteloot, L. | +16

8

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

enthalten in: Respirology | 2024

von Diesler, R. | Legendre, M. | Si‐Mohamed, S. | +24

9

Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system

enthalten in: ERJ open research | 2023

von Bermudez, J. | Nathan, N. | Coiffard, B. | +12

10

Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy

enthalten in: Reproductive biomedicine online | 2023

von Boursier, A. | Boudry, A. | Mitchell, V. | +16

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