E-LIB Suche - Ergebnisse für: Condroyer, Christel

1

Extensive Macular Atrophy with Pseudodrusen-like appearance:

Antropoli, Alessio ; Bianco, Lorenzo ; Condroyer, Christel...
Ophthalmology. , 2024

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

2

RDH5 and RLBP1-associated Inherited Retinal Diseases: Refin..:

Bianco, Lorenzo ; Antropoli, Alessio ; Benadji, Amine...
American Journal of Ophthalmology. , 2024

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

3

Variants in UBAP1L lead to autosomal recessive rod-cone and..:

Zeitz, Christina ; Navarro, Julien ; Azizzadeh Pormehr, Leila...
Genetics in Medicine. 26 (2024) 6 - p. 101081 , 2024

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

4

Generation of gene corrected human isogenic iPSC lines (IDV..:

Ben yacoub, Tasnim ; Letellier, Camille ; Wohlschlegel, Juliette...
Stem Cell Research. 71 (2023) - p. 103166 , 2023

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

5

Retrospective Natural History Study of RPGR-Related Cone- a..:

Nassisi, Marco ; De Bartolo, Giuseppe ; Mohand-Said, Saddek...
International Journal of Molecular Sciences. 23 (2022) 13 - p. 7189 , 2022

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

6

Large Benefit from Simple Things: High-Dose Vitamin A Impro..:

Smirnov, Vasily M. ; Wilmet, Baptiste ; Nassisi, Marco...
International Journal of Molecular Sciences. 23 (2022) 12 - p. 6590 , 2022

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

7

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is..:

Zeitz, Christina ; Méjécase, Cécile ; Michiels, Christelle...
International Journal of Molecular Sciences. 22 (2021) 15 - p. 7875 , 2021

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

8

CNGB1‐related rod‐cone dystrophy: A mutation review and upd..:

Nassisi, Marco ; Smirnov, Vasily M. ; Solis Hernandez, Cyntia...
Human Mutation. 42 (2021) 6 - p. 641-666 , 2021

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

9

Near-infrared fundus autofluorescence alterations correlate..:

Nassisi, Marco ; Lavia, Carlo ; Mohand-Said, Saddek...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

10

A New Mouse Model for Complete Congenital Stationary Night ..:

Orhan, Elise ; Neuillé, Marion ; de Sousa Dias, Miguel...
International Journal of Molecular Sciences. 22 (2021) 9 - p. 4424 , 2021

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

11

WDR34, a candidate gene for non‐syndromic rod‐cone dystroph:

Solaguren‐Beascoa, Maria ; Bujakowska, Kinga M. ; Méjécase, Cécile...
Clinical Genetics. 99 (2020) 2 - p. 298-302 , 2020

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

12

Loss of Function of RIMS2 Causes a Syndromic Congenital Con..:

Mechaussier, Sabrina ; Almoallem, Basamat ; Zeitz, Christina...
The American Journal of Human Genetics. 107 (2020) 3 - p. 580 , 2020

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

13

Spectrum of Disease Severity in Patients With X-Linked Reti..:

Di Iorio, Valentina ; Karali, Marianthi ; Melillo, Paolo...
Investigative Opthalmology & Visual Science. 61 (2020) 14 - p. 36 , 2020

Link: https://doi.org/10.1167/..

14

Loss of Function of RIMS2 Causes a Syndromic Congenital Con..:

Mechaussier, Sabrina ; Almoallem, Basamat ; Zeitz, Christina...
The American Journal of Human Genetics. 106 (2020) 6 - p. 859-871 , 2020

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

15

Peripapillary Sparing With Near Infrared Autofluorescence C..:

Nassisi, Marco ; Mohand-Saïd, Saddek ; Andrieu, Camille...
Investigative Opthalmology & Visual Science. 60 (2019) 15 - p. 4951 , 2019

Link: https://doi.org/10.1167/..