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Delrue, Marie‐Ange
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1

Insulin therapy in acute decompensation of holocarboxylase ..:

Demaret, Tanguy ; Joyal, Jean-Sébastien ; Karalis, Aspasia...
Molecular Genetics and Metabolism Reports.  39 (2024)  - p. 101073 , 2024
Link: https://doi.org/10.1016/..
 
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2

Treatment of Refractory Epilepsy With MEK Inhibitor in Pati..:

D'Onofrio, Gianluca ; Delrue, Marie-Ange ; Lortie, Anne...
Pediatric Neurology.  148 (2023)  - p. 148-151 , 2023
Link: https://doi.org/10.1016/..
 
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3

The Quebec Dental Anomalies Registry: Identifying genes for..:

Wredenhagen, Madeleine S ; Goldstein, Andee ; Mathieu, Hélène...
PNAS Nexus.  2 (2023)  6 - p. , 2023
Link: https://doi.org/10.1093/..
 
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4

PLS3 missense variants affecting the actin-binding domains ..:

Petit, Florence ; Longoni, Mauro ; Wells, Julie...
The American Journal of Human Genetics.  110 (2023)  10 - p. 1787-1803 , 2023
Link: https://doi.org/10.1016/..
 
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5

When to test fetuses for RASopathies? Proposition from a sy..:

Scott, Alexandra ; Di Giosaffatte, Niccolò ; Pinna, Valentina...
Genetics in Medicine.  23 (2021)  6 - p. 1116-1124 , 2021
Link: https://doi.org/10.1038/..
 
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6

A missense mutation in the CSTF2 gene that impairs the func..:

Grozdanov, Petar N ; Masoumzadeh, Elahe ; Kalscheuer, Vera M...
Nucleic Acids Research.  48 (2020)  17 - p. 9804-9821 , 2020
Link: https://doi.org/10.1093/..
 
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7

Prenatal pleural effusions and chylothorax: An unusual pres..:

D'Amours, Guylaine ; Brunel‐Guitton, Catherine ; Delrue, Marie‐Ange...
American Journal of Medical Genetics Part A.  182 (2020)  10 - p. 2454-2460 , 2020
Link: https://doi.org/10.1002/..
 
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8

Left Superior Vena Cava in the Fetus: A Rarely Isolated Ano..:

Minsart, Anne-Frédérique ; Boucoiran, Isabelle ; Delrue, Marie-Ange...
Pediatric Cardiology.  41 (2019)  2 - p. 230-236 , 2019
Link: https://doi.org/10.1007/..
 
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9

Phenotype delineation of ZNF462 related syndrome:

Kruszka, Paul ; Hu, Tommy ; Hong, Sungkook...
American Journal of Medical Genetics Part A.  179 (2019)  10 - p. 2075-2082 , 2019
Link: https://doi.org/10.1002/..
 
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10

Retrospective analysis of fetal vertebral defects: Associat..:

Lemire, Gabrielle T. ; Beauregard‐Lacroix, Éliane ; Campeau, Philippe M....
American Journal of Medical Genetics Part A.  182 (2019)  4 - p. 664-672 , 2019
Link: https://doi.org/10.1002/..
 
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11

Growth charts in Kabuki syndrome 1:

Ruault, Valentin ; Corsini, Carole ; Duflos, Claire...
American Journal of Medical Genetics Part A.  182 (2019)  3 - p. 446-453 , 2019
Link: https://doi.org/10.1002/..
 
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12

Genomic study of severe fetal anomalies and discovery of GR..:

Boissel, Sarah ; Fallet-Bianco, Catherine ; Chitayat, David...
Genetics in Medicine.  20 (2018)  7 - p. 745-753 , 2018
Link: https://doi.org/10.1038/..
 
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13

A case of familial transmission of the newly described DNMT..:

Lemire, Gabrielle ; Gauthier, Julie ; Soucy, Jean‐François.
American Journal of Medical Genetics Part A.  173 (2017)  7 - p. 1887-1890 , 2017
Link: https://doi.org/10.1002/..
 
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14

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 I..:

Legendre, Marine ; Rodriguez - Ballesteros, Montserrat ; Rossi, Massimiliano...
European Journal of Human Genetics.  26 (2017)  2 - p. 287-292 , 2017
Link: https://doi.org/10.1038/..
 
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15

Phenotype and genotype analysis of a French cohort of 119 p..:

Legendre, Marine ; Abadie, Véronique ; Attié‐Bitach, Tania...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  175 (2017)  4 - p. 417-430 , 2017
Link: https://doi.org/10.1002/..
 
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