E-LIB Suche - Ergebnisse für: Pacot, Laurence

1

Droplet Digital PCR for Fast and Accurate Characterization ..:

Pacot, Laurence ; Ye, Manuela ; Nectoux, Juliette...
The Journal of Molecular Diagnostics. 26 (2024) 2 - p. 150-157 , 2024

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

2

Correlation between large rearrangements and patient phenot..:

Pacot, Laurence ; Girish, Milind ; Knight, Samantha...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

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

3

Identification of potential common genetic modifiers of neu..:

Pacot, Laurence ; Sabbagh, Audrey ; Sohier, Pierre...
British Journal of Dermatology. , 2023

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

4

Oro-dental phenotyping and report of three families with RE..:

Resende, Kemelly Karolliny Moreira ; Riou, Margot Charlotte ; Yamaguti, Paulo Marcio...
European Journal of Human Genetics. 31 (2023) 11 - p. 1337-1341 , 2023

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

5

Comment on Intragenic inversions in NF1 gene as pathogenic ..:

Pacot, Laurence ; Chansavang, Albain ; Jacques, Sébastien...
European Journal of Human Genetics. 31 (2023) 4 - p. 380-382 , 2023

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

6

Contribution of whole genome sequencing in the molecular di..:

Pacot, Laurence ; Pelletier, Valerie ; Chansavang, Albain...
Human Genetics. 142 (2022) 1 - p. 1-9 , 2022

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

7

SPiP: Splicing Prediction Pipeline, a machine learning tool..:

Leman, Raphaël ; Parfait, Béatrice ; Vidaud, Dominique...
Human Mutation. 43 (2022) 12 - p. 2308-2323 , 2022

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

8

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/..

9

Prevalence of Enthesopathies in Adults With X-linked Hypoph..:

Herrou, Julia ; Picaud, Axelle Salcion ; Lassalle, Louis...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 1 - p. e224-e235 , 2021

Link: https://doi.org/10.1210/..

10

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, Claire ; Burkitt-Wright, Emma ; Turnpenny, Peter D....
European Journal of Human Genetics. 30 (2021) 3 - p. 291-297 , 2021

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

11

Noninvasive Prenatal Diagnosis of a Paternally Inherited ME..:

Huby, Thomas ; Le Guillou, Edouard ; Burin des Roziers, Cyril...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 4 - p. e1367-e1373 , 2021

Link: https://doi.org/10.1210/..

12

Interstitial Lung Disease-Complicated Anti-MDA5 Antibody in..:

Pacot, Laurence ; Pouchot, Jacques ; De Prost, Nicolas...
Frontiers in Medicine. 7 (2020) - p. , 2020

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

13

Loss of the KH1 domain of FMR1 in humans due to a synonymou..:

Carion, Nathalie ; Briand, Audrey ; Cuisset, Laurence...
Gene. 753 (2020) - p. 144793 , 2020

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

14

One NF1 Mutation may Conceal Another:

Pacot, Laurence ; Burin des Roziers, Cyril ; Laurendeau, Ingrid...
Genes. 10 (2019) 9 - p. 633 , 2019

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

15

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, Claire ; Burkitt-Wright, Emma ; Turnpenny, Peter D...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-01015-4. , 2022

Link: https://hal.science/hal-..