E-LIB Suche - Ergebnisse für: Rivolta, Carlo

1

An atypical form of 60S ribosomal subunit in Diamond-Blackf..:

Fellmann, Florence ; Saunders, Carol ; O'Donohue, Marie-Françoise...
JCI Insight. , 2024

2

A tool for estimating ground-based InSAR acquisition charac..:

Wolff, Charlotte ; Derron, Marc-Henri ; Rivolta, Carlo.
Geoscientific Instrumentation, Methods and Data Systems. 13 (2024) 2 - p. 225-248 , 2024

Link: https://doi.org/10.5194/..

3

Herpes simplex encephalitis due to a mutation in an E3 ubiq..:

Bibert, Stéphanie ; Quinodoz, Mathieu ; Perriot, Sylvain...
Nature Communications. 15 (2024) 1 - p. , 2024

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

4

GNB1-Related Rod-Cone Dystrophy: A Case Report:

Conti, Giovanni Marco ; Cancellieri, Francesca ; Quinodoz, Mathieu...
Case Reports in Ophthalmology. 15 (2024) 1 - p. 230-237 , 2024

Link: https://doi.org/10.1159/..

5

Genetic profile of syndromic retinitis pigmentosa in Portug..:

Cortinhal, Telmo ; Santos, Cristina ; Vaz-Pereira, Sara...
Graefe's Archive for Clinical and Experimental Ophthalmology. 262 (2024) 6 - p. 1883-1897 , 2024

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

6

Combining a prioritization strategy and functional studies ..:

Dueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

7

Mutations in SAMD7 cause autosomal-recessive macular dystro..:

Bauwens, Miriam ; Celik, Elifnaz ; Zur, Dinah...
The American Journal of Human Genetics. 111 (2024) 2 - p. 393-402 , 2024

Link: https://doi.org/10.1016/..

8

Fine-tuning FAM161A gene augmentation therapy to restore re..:

Arsenijevic, Yvan ; Chang, Ning ; Mercey, Olivier...
EMBO Molecular Medicine. 16 (2024) 4 - p. 805-822 , 2024

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

9

Loss-of-function variants in UBAP1L cause autosomal recessi..:

Han, Ji Hoon ; Rodenburg, Kim ; Hayman, Tamar...
Genetics in Medicine. 26 (2024) 6 - p. 101106 , 2024

Link: https://doi.org/10.1016/..

10

Detection of elusive DNA copy-number variations in heredita..:

Quinodoz, Mathieu ; Kaminska, Karolina ; Cancellieri, Francesca...
The American Journal of Human Genetics. 111 (2024) 4 - p. 701-713 , 2024

Link: https://doi.org/10.1016/..

11

Genetic Testing of Patients with Inherited Retinal Diseases..:

Calzetti, Giacomo ; Schwarzwälder, Kerstin ; Ottonelli, Giorgia...
Ophthalmic Research. , 2024

Link: https://doi.org/10.1159/..

12

Sinkhole risk mapping and early warning: the case of Camaio..:

Intrieri, Emanuele ; Confuorto, Pierluigi ; Bianchini, Silvia...
Frontiers in Earth Science. 11 (2023) - p. , 2023

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

13

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessi..:

Ullah, Mukhtar ; Rehman, Atta Ur ; Folcher, Marc...
Ophthalmic Research. , 2023

Link: https://doi.org/10.1159/..

14

Assessing the Hazard of Deep-Seated Rock Slope Instability ..:

Wolff, Charlotte ; Jaboyedoff, Michel ; Fei, Li...
Remote Sensing. 15 (2023) 22 - p. 5396 , 2023

Link: https://doi.org/10.3390/..

15

Genetics of retinitis pigmentosa and other hereditary retin..:

Conti, Giovanni Marco ; Vaclavik, Veronika ; Rivolta, Carlo...
Ophthalmic Research. , 2023

Link: https://doi.org/10.1159/..