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Masurel, Alice
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1

Haploinsufficiency of ARFGEF1 is associated with developmen..:

Thomas, Quentin ; Gautier, Thierry ; Marafi, Dana...
Genetics in Medicine.  23 (2021)  10 - p. 1901-1911 , 2021
Link: https://doi.org/10.1038/..
 
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2

Care management in a French cohort with Down syndrome from ..:

Roux-Levy, Pierre-Henri ; Sanlaville, Damien ; De Freminville, Bénédicte...
European Journal of Medical Genetics.  64 (2021)  10 - p. 104290 , 2021
Link: https://doi.org/10.1016/..
 
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3

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/..
 
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4

Palliative Care in SMA Type 1: A Prospective Multicenter Fr..:

Hully, Marie ; Barnerias, Christine ; Chabalier, Delphine...
Frontiers in Pediatrics.  8 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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5

Associations between cognitive performance and the rehabili..:

Roux-Levy, Pierre-Henri ; Bournez, Marie ; Masurel, Alice...
European Journal of Medical Genetics.  63 (2020)  12 - p. 104064 , 2020
Link: https://doi.org/10.1016/..
 
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6

Population and evolutionary genetics of the PAH locus to un..:

Oussalah, Abderrahim ; Jeannesson-Thivisol, Elise ; Chéry, Céline...
EBioMedicine.  51 (2020)  - p. 102623 , 2020
Link: https://doi.org/10.1016/..
 
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7

Exome sequencing in clinical settings: preferences and expe..:

Chassagne, Aline ; Pélissier, Aurore ; Houdayer, Françoise...
European Journal of Human Genetics.  27 (2019)  5 - p. 701-710 , 2019
Link: https://doi.org/10.1038/..
 
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8

Functional classification ofATMvariants in ataxia‐telangiec..:

Fiévet, Alice ; Bellanger, Dorine ; Rieunier, Guillaume...
Human Mutation.  40 (2019)  10 - p. 1713-1730 , 2019
Link: https://doi.org/10.1002/..
 
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9

The oculoauriculofrontonasal syndrome: Further clinical cha..:

Lehalle, Daphné ; Altunoglu, Umut ; Bruel, Ange‐Line...
American Journal of Medical Genetics Part A.  176 (2018)  12 - p. 2740-2750 , 2018
Link: https://doi.org/10.1002/..
 
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10

Intragenic FMR1 disease-causing variants: a significant mut..:

Quartier, Angélique ; Poquet, Hélène ; Gilbert-Dussardier, Brigitte...
European Journal of Human Genetics.  25 (2017)  4 - p. 423-431 , 2017
Link: https://doi.org/10.1038/..
 
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11

Expanding the Phenotype Associated with NAA10‐Related N‐Ter..:

Saunier, Chloé ; Støve, Svein Isungset ; Popp, Bernt...
Human Mutation.  37 (2016)  8 - p. 755-764 , 2016
Link: https://doi.org/10.1002/..
 
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12

Genotype-phenotype associations in French patients with phe..:

Jeannesson-Thivisol, Elise ; Feillet, François ; Chéry, Céline...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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13

29 French adult patients with PMM2-congenital disorder of g..:

Monin, Marie-Lorraine ; Mignot, Cyril ; De Lonlay, Pascale...
Orphanet Journal of Rare Diseases.  9 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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14

Delineation of a new chromosome 20q11.2 duplication syndrom..:

Avila, Magali ; Kirchhoff, Maria ; Marle, Nathalie...
American Journal of Medical Genetics Part A.  161 (2013)  7 - p. 1594-1598 , 2013
Link: https://doi.org/10.1002/..
 
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15

310 Aorto-pulmonary anastomosis in tuberous sclerosis and c..:

Bonnet, Caroline ; Gudjoncik, Aurélie ; Falcon-Eicher, Sylvie...
Archives of Cardiovascular Diseases Supplements.  3 (2011)  1 - p. 102 , 2011
Link: https://doi.org/10.1016/..
 
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