E-LIB Suche - Ergebnisse für: MORICE-PICARD, Fanny

1

Proteome characterization of XPC-deficient melanocytes gene..:

Cario, Muriel ; Scalia, Julie ; Mahfouf, Walid...
Journal of Dermatological Science. 114 (2024) 2 - p. 79-82 , 2024

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

2

Clinical phenotype of the PIK3R1-related vascular overgrowt..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
British Journal of Dermatology. , 2024

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

3

The experience of albinism in France: a qualitative study o..:

Fournier, Hugo ; Hasdenteufel, Marie ; Garrouteigt, Constance...
BMC Medicine. 22 (2024) 1 - p. , 2024

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

4

Psychosocial implications of rare genetic skin diseases aff..:

Fournier, Hugo ; Calcagni, Nicolas ; Morice-Picard, Fanny.
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

5

A novel compound heterozygous variant in the LLS gene is as..:

Morice-Picard, Fanny ; Lanvin, Pierre-Louis ; Lasseaux, Eulalie...
Clinical and Experimental Dermatology. 48 (2023) 9 - p. 1087-1089 , 2023

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

6

Ophthalmologic Phenotype–Genotype Correlations in Patients ..:

Seguy, Paul-Henri ; Korobelnik, Jean-François ; Delyfer, Marie-Noëlle...
Investigative Opthalmology & Visual Science. 64 (2023) 12 - p. 26 , 2023

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

7

A novel pathogenic variant in the FZD6 gene causes recessiv..:

Lanvin, Pierre-Louis ; Lebreton, Louis ; Lasseaux, Eulalie...
Clinical and Experimental Dermatology. 48 (2023) 12 - p. 1414-1417 , 2023

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

8

Spectre clinique et mutationnel des malformations vasculair..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
Morphologie. 107 (2023) 359 - p. 100617 , 2023

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

9

Genomic mutation landscape of skin cancers from DNA repair-..:

Yurchenko, Andrey A. ; Rajabi, Fatemeh ; Braz-Petta, Tirzah...
Nature Communications. 14 (2023) 1 - p. , 2023

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

10

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype ..:

Moreno-Artero, Ester ; Morice-Picard, Fanny ; Lasseaux, Eulalie...
Genes. 13 (2022) 12 - p. 2198 , 2022

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

11

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

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

12

Albinism:

, In: Clinical Ophthalmic Genetics and Genomics,

Lasseaux, Eulalie ; Neveu, Magella M. ; Fiore, Mathieu.. - p. 393-402 , 2022

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

13

Severe Phenotype in Patients with Large Deletions of NF1:

Pacot, Laurence ; Vidaud, Dominique ; Sabbagh, Audrey...
Cancers. 13 (2021) 12 - p. 2963 , 2021

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

14

Identification of novel UROS mutations in a patient with co..:

Blouin, Jean-Marc ; Ged, Cécile ; Bernardo-Seisdedos, Ganeko...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100722 , 2021

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

15

ARP-T1-associated Bazex–Dupré–Christol syndrome is an inher..:

Park, Hyun-Sook ; Papanastasi, Eirini ; Blanchard, Gabriela...
Communications Biology. 4 (2021) 1 - p. , 2021

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