E-LIB Suche - Ergebnisse für: Baujat, Geneviève

1

Identification of kinesin family member (KIF22) homozygous ..:

Dubail, Johanne ; Rondeau, Sophie ; Michot, Caroline...
Journal of Bone and Mineral Research. 39 (2024) 3 - p. 287-297 , 2024

Link: https://doi.org/10.1093/..

2

Pathogenic variants affecting the TB5 domain of the fibrill..:

Arnaud, Pauline ; Mougin, Zakaria ; Baujat, Genevieve...
Journal of Medical Genetics. , 2024

Link: https://doi.org/10.1136/..

3

Clinical spectrum of rare bone fragility disorders and resp..:

Charpié, Maëlle ; Brunelle, Perrine ; Baujat, Geneviève...
European Journal of Human Genetics. , 2024

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

4

Reduction of New Heterotopic Ossification (HO) in the Open‐..:

Pignolo, Robert J. ; Hsiao, Edward C. ; Al Mukaddam, Mona...
Journal of Bone and Mineral Research. 38 (2023) 3 - p. 381-394 , 2023

Link: https://doi.org/10.1002/..

5

Bone allografting: an original method for biological osteos..:

Gaume, Mathilde ; El Yahiaouni, Sarah ; De Tienda, Marine...
International Orthopaedics. 47 (2023) 7 - p. 1863-1869 , 2023

Link: https://doi.org/10.1007/..

6

The Effects of Palovarotene in Patients with Fibrodysplasia..:

Pignolo, Robert J ; Hsiao, Edward C ; Mukaddam, Mona Al...
Future Rare Diseases. 3 (2023) 1 - p. , 2023

Link: https://doi.org/10.2217/..

7

European Achondroplasia Forum guiding principles for the de..:

Irving, Melita ; AlSayed, Moeenaldeen ; Arundel, Paul...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Real-world evidence in achondroplasia: considerations for a..:

Alanay, Yasemin ; Mohnike, Klaus ; Nilsson, Ola...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

AI-based diagnosis in mandibulofacial dysostosis with micro..:

Hennocq, Quentin ; Bongibault, Thomas ; Marlin, Sandrine...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

10

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome:

Aubert‐Mucca, Marion ; Janel, Caroline ; Porquet‐Bordes, Valérie...
Clinical Genetics. 104 (2023) 1 - p. 114-120 , 2023

Link: https://doi.org/10.1111/..

11

Low risk of embryonic and other cancers in PIK3CA‐related o..:

Faivre, Laurence ; Crépin, Jean‐Charles ; Réda, Manon...
Clinical Genetics. 104 (2023) 5 - p. 554-563 , 2023

Link: https://doi.org/10.1111/..

12

Hypochondroplasia gain-of-function mutation in FGFR3 causes..:

Loisay, Léa ; Komla-Ebri, Davide ; Morice, Anne...
JCI Insight. 8 (2023) 12 - p. , 2023

Link: https://doi.org/10.1172/..

13

Study methodology and insights from the palovarotene clinic..:

Pignolo, Robert J. ; Al Mukaddam, Mona ; Baujat, Geneviève...
BMC Medical Research Methodology. 23 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

14

Parents' Experience of Administering Vosoritide: A Daily In..:

NiMhurchadha, Sinead ; Butler, Karen ; Argent, Rob...
Advances in Therapy. 40 (2023) 5 - p. 2457-2470 , 2023

Link: https://doi.org/10.1007/..

15

Craniofacial growth and function in achondroplasia: a multi..:

Morice, Anne ; Taverne, Maxime ; Eché, Sophie...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..