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Alinoë Lavillaureix
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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