E-LIB Suche - Ergebnisse für: Laffargue, Fanny

1

Relevance of Extending FGFR3 Gene Analysis in Osteochondrod..:

Ouedraogo, Zangbéwendé Guy ; Janel, Caroline ; Janin, Alexandre...
Genes. 15 (2024) 2 - p. 225 , 2024

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

2

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023

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

3

Severe neuromuscular forms of glycogen storage disease type..:

Lefèvre, Charles R. ; Collardeau‐Frachon, Sophie ; Streichenberger, Nathalie...
Journal of Inherited Metabolic Disease. 47 (2023) 2 - p. 255-269 , 2023

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

4

Is an association of acro-osteolysis, bone fragility, and e..:

Echaubard, Stéphane ; Pebrel-Richard, Céline ; Chausset, Aurélie...
Pediatric Rheumatology. 20 (2022) 1 - p. , 2022

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

5

Same performance of exome sequencing before and after fetal..:

Bourgon, Nicolas ; Garde, Aurore ; Bruel, Ange-Line...
European Journal of Human Genetics. 30 (2022) 8 - p. 967-975 , 2022

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

6

HemizygousFGGp.Ala108Gly in a hypofibrinogenemic patient wi..:

Couzens, Alexander ; Lebreton, Aurélien ; Masclaux, Frédéric...
Haemophilia. 28 (2022) 5 - p. , 2022

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

7

First evidence of SOX2 mutations in Peters' anomaly: Lesson..:

Chesneau, Bertrand ; Aubert‐Mucca, Marion ; Fremont, Félix...
Clinical Genetics. 101 (2022) 5-6 - p. 494-506 , 2022

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

8

Syndrome XLAG et duplication Xq26.3:

Salaun, Gaëlle ; Rodde, Eloïse ; Laffargue, Fanny...
Morphologie. 106 (2022) 354 - p. S18 , 2022

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

9

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Mar..:

Lafontaine, Maxime ; Lia, Anne‐Sophie ; Bourthoumieu, Sylvie...
Annals of Clinical and Translational Neurology. 8 (2021) 2 - p. 471-476 , 2021

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

10

Novel CDK10 variants with multicystic dysplastic kidney, le..:

Darcha, Claude ; Laffargue, Fanny ; Boutaud, Lucile...
Clinical Genetics. 100 (2021) 3 - p. 348-349 , 2021

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

11

Primrose syndrome: a phenotypic comparison of patients with..:

Juven, Aurélien ; Nambot, Sophie ; Piton, Amélie...
European Journal of Human Genetics. 28 (2020) 8 - p. 1044-1055 , 2020

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

12

Hearing loss in inherited peripheral neuropathies: Molecula..:

Lerat, Justine ; Magdelaine, Corinne ; Roux, Anne‐Françoise...
Molecular Genetics & Genomic Medicine. 7 (2019) 9 - p. , 2019

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

13

Obésité sévère et retard moteur associés à une duplication ..:

Kemeny, Stephan ; Laffargue, Fanny ; Eymard-Pierre, Eleonore...
Morphologie. 100 (2016) 330 - p. 176 , 2016

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

14

Large national series of patients with Xq28 duplication inv..:

El Chehadeh, Salima ; Faivre, Laurence ; Mosca‐Boidron, Anne‐Laure...
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 116-129 , 2015

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

15

Microdélétion 17q12 et hernie diaphragmatique:

Salaün, Gaëlle ; Kemeny, Stephan ; Pebrel-Richard, Céline...
Morphologie. 99 (2015) 327 - p. 169-170 , 2015

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