E-LIB Suche - Ergebnisse für: Morice‐Picard, Fanny

1

Dermatological manifestations in Costello syndrome: A prosp..:

Bessis, Didier ; Bursztejn, Anne‐Claire ; Morice‐Picard, Fanny...
Journal of the European Academy of Dermatology and Venereology. , 2024

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

2

Giant syringocystadenocarcinoma papilliferum with conjuncti..:

Dupont, Aurore ; Vergara, Rémi ; Pacaud, Alizé...
Journal of the European Academy of Dermatology and Venereology. 37 (2023) 12 - p. , 2023

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

3

Wells syndrome and acquired cutis laxa: An atypical associa..:

Bouquerel, Margot ; Dequidt, Laure ; Jullie, Marie‐Laure...
The Journal of Dermatology. 50 (2023) 11 - p. , 2023

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

4

Unsuspected consequences of synonymous and missense variant..:

Michaud, Vincent ; Sequeira, Angèle ; Mercier, Elina...
Pigment Cell & Melanoma Research. , 2023

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

5

Xenopus: An in vivo model for studying skin response to ult..:

El Mir, Joudi ; Fedou, Sandrine ; Thézé, Nadine...
Development, Growth & Differentiation. 65 (2023) 4 - p. 194-202 , 2023

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

6

SCN10Avariants associated with congenital harlequin syndrom:

Halle, Aurelie ; De Becdelievre, Alix ; Funalot, Benoit...
British Journal of Dermatology. 186 (2022) 6 - p. 1039-1041 , 2022

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

7

Clinical and neuroimaging findings in 33 patients with MCAP..:

Garde, Aurore ; Guibaud, Laurent ; Goldenberg, Alice...
Clinical Genetics. 99 (2021) 5 - p. 650-661 , 2021

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

8

Next‐generation sequencing in a series of 80 fetuses with c..:

Liu, Hui ; Giguet‐Valard, Anna‐Gaëlle ; Simonet, Thomas...
Human Mutation. 41 (2020) 12 - p. 2167-2178 , 2020

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

9

Phenotypic spectrum of TGFB3 disease‐causing variants in a ..:

Marsili, Luisa ; Overwater, Eline ; Hanna, Nadine...
Clinical Genetics. 97 (2020) 5 - p. 723-730 , 2020

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

10

Cutaneous lipomas and macrocephaly as early signs of PTEN h..:

Martin, Hélène ; Bessis, Didier ; Bourrat, Emmanuelle...
Pediatric Dermatology. 37 (2020) 5 - p. 839-843 , 2020

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

11

Novel variants in the BLOC1S3 gene in patients presenting a..:

Pennamen, Perrine ; Tingaud‐Sequeira, Angèle ; Michaud, Vincent...
Pigment Cell & Melanoma Research. 34 (2020) 1 - p. 132-135 , 2020

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

12

PADDAS syndrome associated with hair dysplasia caused by a ..:

Bonnemason‐Carrere, Paul ; Morice‐Picard, Fanny ; Pennamen, Perrine...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 1030-1033 , 2019

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

13

Isolated straight hair nevus in a White child:

Rault, Lucie ; Morice‐Picard, Fanny ; Svahn, Isabelle...
Pediatric Dermatology. 36 (2019) 2 - p. 260-261 , 2019

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

14

Molecular characterization of a series of 990 index patient..:

Lasseaux, Eulalie ; Plaisant, Claudio ; Michaud, Vincent...
Pigment Cell & Melanoma Research. 31 (2018) 4 - p. 466-474 , 2018

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

15

Pigmentation abnormalities in nucleotide excision repair di..:

Kasraian, Zeinab ; Trompezinski, Sandra ; Cario‐André, Muriel...
Pigment Cell & Melanoma Research. 32 (2018) 1 - p. 25-40 , 2018

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