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Alinoë Lavillaureix
96
results:
Search for persons
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Format
Online (96)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (79)
Languages
english (86)
french (2)
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1
DISP1 deficiency: Monoallelic and biallelic variants cause ..:
Lavillaureix, Alinoë
;
Rollier, Paul
;
Kim, Artem
...
Genetics in Medicine. 26 (2024) 7 - p. 101126 , 2024
Link:
https://doi.org/10.1016/..
?
2
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical a..:
Wojcik, Monica H.
;
Srivastava, Siddharth
;
Agrawal, Pankaj B.
...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1900-1910 , 2023
Link:
https://doi.org/10.1002/..
?
3
Prenatal phenotype of 22q11 micro-duplications: A systemati..:
Mary, Laura
;
Lavillaureix, Alinoë
;
Perrot, Adélie
...
European Journal of Medical Genetics. 65 (2022) 2 - p. 104422 , 2022
Link:
https://doi.org/10.1016/..
?
4
Phénotype prénatal des microduplications 22q11 : descriptio..:
Mary, Laura
;
Lavillaureix, Alinoë
;
Perrot, Adélie
...
Morphologie. 106 (2022) 354 - p. S19 , 2022
Link:
https://doi.org/10.1016/..
?
5
Validation fonctionnelle d'un variant homozygote du gène de..:
Jaillard, Sylvie
;
Leclerc, Delphine
;
Bales, Diane
...
Morphologie. 106 (2022) 354 - p. S19-S20 , 2022
Link:
https://doi.org/10.1016/..
?
6
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related ..:
Cospain, Auriane
;
Schaefer, Elise
;
Faoucher, Marie
...
Clinical Genetics. 99 (2021) 5 - p. 732-739 , 2021
Link:
https://doi.org/10.1111/..
?
7
Antenatal finding of 16q24.1 duplication including FOXF1, r..:
Lavillaureix, Alinoë
;
Foulon, Gauthier
;
Launay, Erika
...
Clinics and Research in Hepatology and Gastroenterology. 45 (2021) 5 - p. 101562 , 2021
Link:
https://doi.org/10.1016/..
?
8
Accelerated genome sequencing with controlled costs for inf..:
Denommé-Pichon, Anne-Sophie
;
Vitobello, Antonio
;
Olaso, Robert
...
European Journal of Human Genetics. 30 (2021) 5 - p. 567-576 , 2021
Link:
https://doi.org/10.1038/..
?
9
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, an..:
Molin, Arnaud
;
Lemoine, Sandrine
;
Kaufmann, Martin
...
Frontiers in Endocrinology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
10
ATP7A mutation with occipital horns and distal motor neurop..:
Fradin, Melanie
;
Lavillaureix, Alinoe
;
Jaillard, Sylvie
...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104087 , 2020
Link:
https://doi.org/10.1016/..
?
11
Incidental diagnosis of mucopolysaccharidosis type I in an ..:
Cospain, Auriane
;
Dubourg, Christèle
;
Gastineau, Swellen
...
Molecular Genetics and Metabolism Reports. 24 (2020) - p. 100621 , 2020
Link:
https://doi.org/10.1016/..
?
12
Reverse Pathway Genetic Approach Identifies Epistasis in Au..:
Mitra, Ileena
;
Lavillaureix, Alinoë
;
Yeh, Erika
...
PLOS Genetics. 13 (2017) 1 - p. e1006516 , 2017
Link:
https://doi.org/10.1371/..
?
13
New generation sequencing for the diagnosis of intellectual..:
Lavillaureix, Alinoe
;
Nava, Caroline
;
Mignot, Cyril
...
European Journal of Paediatric Neurology. 21 (2017) - p. e155 , 2017
Link:
https://doi.org/10.1016/..
?
14
Correction: Pleiotropic Mechanisms Indicated for Sex Differ..:
Mitra, Ileena
;
Tsang, Kathryn
;
Ladd-Acosta, Christine
...
PLOS Genetics. 13 (2017) 6 - p. e1006831 , 2017
Link:
https://doi.org/10.1371/..
?
15
Pleiotropic Mechanisms Indicated for Sex Differences in Aut..:
Mitra, Ileena
;
Tsang, Kathryn
;
Ladd-Acosta, Christine
...
PLOS Genetics. 12 (2016) 11 - p. e1006425 , 2016
Link:
https://doi.org/10.1371/..
1-15