Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Bachmann‐Gagescu, Ruxandra
51  Ergebnisse:
Personensuche X
?
1

Healthcare recommendations for Joubert syndrome:

Bachmann‐Gagescu, Ruxandra ; Dempsey, Jennifer C. ; Bulgheroni, Sara...
American Journal of Medical Genetics Part A.  182 (2019)  1 - p. 229-249 , 2019
Link: https://doi.org/10.1002/..
 
?
2

A new mouse model for the neurodevelopmental ciliopathy Jou..:

Bachmann‐Gagescu, Ruxandra
The Journal of Pathology.  248 (2019)  4 - p. 393-395 , 2019
Link: https://doi.org/10.1002/..
 
?
3

Mortality in Joubert syndrome:

Dempsey, Jennifer C. ; Phelps, Ian G. ; Bachmann‐Gagescu, Ruxandra...
American Journal of Medical Genetics Part A.  173 (2017)  5 - p. 1237-1242 , 2017
Link: https://doi.org/10.1002/..
 
?
4

Limited Added Diagnostic Value of Whole Genome Sequencing i..:

Maggi, Jordi ; Koller, Samuel ; Feil, Silke...
International Journal of Molecular Sciences.  25 (2024)  12 - p. 6540 , 2024
Link: https://doi.org/10.3390/..
 
?
5

Insights Gained From Zebrafish Models for the Ciliopathy Jo..:

Rusterholz, Tamara D. S. ; Hofmann, Claudia ; Bachmann-Gagescu, Ruxandra
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
?
6

Control of meiotic chromosomal bouquet and germ cell morpho..:

Mytlis, Avishag ; Kumar, Vineet ; Qiu, Tao...
Science.  376 (2022)  6599 - p. , 2022
Link: https://doi.org/10.1126/..
 
?
7

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor ..:

Masek, Markus ; Etard, Christelle ; Hofmann, Claudia...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
?
8

Challenges for the implementation of next generation sequen..:

Vintschger, Ella ; Kraemer, Dennis ; Joset, Pascal...
European Journal of Human Genetics.  31 (2022)  8 - p. 953-961 , 2022
Link: https://doi.org/10.1038/..
 
?
9

Genetic compensation for cilia defects in cep290 mutants by..:

Cardenas-Rodriguez, Magdalena ; Austin-Tse, Christina ; Bergboer, Judith G. M....
Journal of Cell Science.  134 (2021)  14 - p. , 2021
Link: https://doi.org/10.1242/..
 
?
10

Biallelic variants in PSMB1 encoding the proteasome subunit..:

Antonarakis, Stylianos E ; Bachmann-Gagescu, Ruxandra ; Krüger, Elke...
Human Molecular Genetics.  29 (2020)  7 - p. 1132-1143 , 2020
Link: https://doi.org/10.1093/..
 
?
11

The photoreceptor cilium and its diseases:

Bachmann-Gagescu, Ruxandra ; Neuhauss, Stephan CF
Current Opinion in Genetics & Development.  56 (2019)  - p. 22-33 , 2019
Link: https://doi.org/10.1016/..
 
?
12

Elucidation of the phenotypic spectrum and genetic landscap..:

Boonsawat, Paranchai ; Joset, Pascal ; Steindl, Katharina...
Genetics in Medicine.  21 (2019)  9 - p. 2043-2058 , 2019
Link: https://doi.org/10.1038/..
 
?
13

Further corroboration of distinct functional features in SC..:

Begemann, Anaïs ; Acuña, Mario A. ; Zweier, Markus...
Molecular Medicine.  25 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
?
14

Publisher Correction: The ciliopathy protein TALPID3/KIAA05..:

Ojeda Naharros, Irene ; Cristian, Flavia B. ; Zang, Jingjing...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
?
15

The ciliopathy protein TALPID3/KIAA0586 acts upstream of Ra..:

Ojeda Naharros, Irene ; Cristian, Flavia B. ; Zang, Jingjing...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
1-15