E-LIB Suche - Ergebnisse für: Lambert, Laetitia

1

Série de 3 familles avec probable effet fondateur de la var..:

Clément, Guillemette ; Becker, Aurélie ; Felici, Charlotte...
Revue Neurologique. 180 (2024) - p. S71-S72 , 2024

2

Patient with a heterozygous pathogenic variant in CSNK2A1 g..:

Blanc, Albin ; Bonnet, Céline ; Wandzel, Marion...
American Journal of Medical Genetics Part A. 194 (2024) 9 - p. , 2024

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

3

Patients with complex and very-early-onset ATL1-related spa..:

Hamamie-Chaar, Angélique ; Renaud, Mathilde ; Gençpinar, Pinar...
Journal of Neurology. , 2024

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

4

Combining globally search for a regular expression and prin..:

Tran Mau-Them, Frédéric ; Overs, Alexis ; Bruel, Ange-Line...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

5

Heterozygous pathogenic variation in GCH1 associated with t..:

Ravel, Jean-Marie ; Michaud, Maud ; Frismand, Solène...
Parkinsonism & Related Disorders. 109 (2023) - p. 105310 , 2023

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

6

MAST1-related mega-corpus-callosum syndrome with central hy..:

Sloboda, Natacha ; Renard, Emeline ; Lambert, Laetitia...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104853 , 2023

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

7

Optimized testing strategy for the diagnosis of GAA-FGF14 a..:

Bonnet, Céline ; Pellerin, David ; Roth, Virginie...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

8

Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Hist..:

Willekens, Jeremy ; Mosca, Pauline ; Burt‐Oberecken, Nathan...
Molecular Nutrition & Food Research. 67 (2023) 21 - p. , 2023

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

9

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric..:

Frémond, Marie-Louise ; Hully, Marie ; Fournier, Benjamin...
Journal of Clinical Immunology. 43 (2023) 6 - p. 1436-1447 , 2023

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

10

Patient satisfaction, experience and preferences in the imp..:

Lançon, Allan ; Beaudouin, Amandine ; Lambert, Laetitia...
European Journal of Medical Genetics. 66 (2023) 10 - p. 104841 , 2023

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

11

Clinical utility of periodic reinterpretation of CNVs of un..:

Ravel, Jean-Marie ; Renaud, Mathilde ; Muller, Jean...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

12

Reduced penetrance of an eastern French mutation in ATL1 au..:

Hocquel, Armand ; Ravel, Jean-Marie ; Lambert, Laetitia...
neurogenetics. 23 (2022) 4 - p. 241-255 , 2022

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

13

Atypical phenotype of a patient with Bardet–Biedl syndrome ..:

Sloboda, Natacha ; Lambert, Laetitia ; Ciorna, Viorica...
Molecular Genetics & Genomic Medicine. 10 (2022) 5 - p. , 2022

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

14

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/..

15

First report of a short in‐frame biallelic deletion removin..:

Ravel, Jean‐Marie ; Comel, Margot ; Wandzel, Marion...
American Journal of Medical Genetics Part A. 188 (2022) 11 - p. 3343-3349 , 2022

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