Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Huber, Céline
240  Ergebnisse:
Personensuche X
?
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

When profitability meets conservation objectives through bi..:

Huber, Celine ; Doyen, Luc ; Ferrari, Sylvie
Natural Resource Modeling.  37 (2023)  2 - p. , 2023
Link: https://doi.org/10.1111/..
 
?
3

Clinical diversity and molecular mechanism of VPS35L-associ..:

Otsuji, Shiomi ; Nishio, Yosuke ; Tsujita, Maki...
Journal of Medical Genetics.  60 (2022)  4 - p. 359-367 , 2022
Link: https://doi.org/10.1136/..
 
?
4

Biallelic variants in SLC35B2 cause a novel chondrodysplasi..:

Guasto, Alessandra ; Dubail, Johanne ; Aguilera-Albesa, Sergio...
Brain.  145 (2022)  10 - p. 3711-3722 , 2022
Link: https://doi.org/10.1093/..
 
?
5

Calvarial doughnut lesions with bone fragility in a French-..:

Basalom, Shuaa ; Fiscaletti, Mélissa ; Miranda, Valancy...
Bone Reports.  15 (2021)  - p. 101121 , 2021
Link: https://doi.org/10.1016/..
 
?
6

A new case of KIAA0753-related variant of Jeune asphyxiatin..:

Faudi, Emilien ; Brischoux-Boucher, Elise ; Huber, Céline...
European Journal of Medical Genetics.  63 (2020)  4 - p. 103823 , 2020
Link: https://doi.org/10.1016/..
 
?
7

Absence of GP130 cytokine receptor signaling causes extende..:

Chen, Yin-Huai ; Grigelioniene, Giedre ; Newton, Phillip T....
Journal of Experimental Medicine.  217 (2020)  3 - p. , 2020
Link: https://doi.org/10.1084/..
 
?
8

Homozygous Loss-of-Function Mutations in CCDC134 Are Respon..:

Dubail, Johanne ; Brunelle, Perrine ; Baujat, Geneviève...
Journal of Bone and Mineral Research.  35 (2020)  8 - p. 1470-1480 , 2020
Link: https://doi.org/10.1002/..
 
?
9

Biallelic KIF24 Variants Are Responsible for a Spectrum of ..:

Reilly, Madeline Louise ; Ain, Noor ul ; Muurinen, Mari...
Journal of Bone and Mineral Research.  37 (2020)  9 - p. 1642-1652 , 2020
Link: https://doi.org/10.1002/..
 
?
10

Heterozygous FGFR1 mutation may be responsible for an incom..:

Marzin, Pauline ; Baujat, Geneviève ; Gensburger, Déborah...
European Journal of Medical Genetics.  63 (2020)  2 - p. 103729 , 2020
Link: https://doi.org/10.1016/..
 
?
11

Novel RPL13 Variants and Variable Clinical Expressivity in ..:

Costantini, Alice ; Alm, Jessica J ; Tonelli, Francesca...
Journal of Bone and Mineral Research.  36 (2020)  2 - p. 283-297 , 2020
Link: https://doi.org/10.1002/..
 
?
12

Serum bikunin isoforms in congenital disorders of glycosyla..:

Haouari, Walid ; Dubail, Johanne ; Lounis‐Ouaras, Samra...
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1349-1359 , 2020
Link: https://doi.org/10.1002/..
 
?
13

Biallelic variants in KYNU cause a multisystemic syndrome w..:

Ehmke, Nadja ; Cusmano-Ozog, Kristina ; Koenig, Rainer...
Bone.  133 (2020)  - p. 115219 , 2020
Link: https://doi.org/10.1016/..
 
?
14

Novel RPL13 variants and evidence for incomplete penetrance..:

Costantini, Alice ; Alm, Jessica J. ; Tonelli, Francesca...
Bone Reports.  13 (2020)  - p. 100647 , 2020
Link: https://doi.org/10.1016/..
 
?
15

Human IFT52 mutations uncover a novel role for the protein ..:

Dupont, Marie Alice ; Humbert, Camille ; Huber, Céline...
Human Molecular Genetics.  28 (2019)  16 - p. 2720-2737 , 2019
Link: https://doi.org/10.1093/..
 
1-15