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Vanlerberghe, Clémence
70  results:
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1

Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase..:

Bordeneuve‐Plante, Pauline ; Boussion, Simon ; Rama, Mélanie...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

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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3

Parenting stress and needs for social support in mothers an..:

Marie, Amélie ; Clabaut, Laëtitia ; Corbeil, Marjolaine...
Frontiers in Psychology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine.  25 (2023)  9 - p. 100883 , 2023
Link: https://doi.org/10.1016/..
 
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5

First evidence of SOX2 mutations in Peters' anomaly: Lesson..:

Chesneau, Bertrand ; Aubert‐Mucca, Marion ; Fremont, Félix...
Clinical Genetics.  101 (2022)  5-6 - p. 494-506 , 2022
Link: https://doi.org/10.1111/..
 
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6

Exome sequencing efficacy and phenotypic expansions involvi..:

Sy, Mary R. ; Chauhan, Jaynee ; Prescott, Katrina...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3492-3504 , 2022
Link: https://doi.org/10.1002/..
 
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7

Monoallelic and biallelic variants in LEF1 are associated w..:

Dufour, William ; Alawbathani, Salem ; Jourdain, Anne-Sophie...
Genetics in Medicine.  24 (2022)  8 - p. 1708-1721 , 2022
Link: https://doi.org/10.1016/..
 
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8

The natural history of a family with aortic dissection asso..:

Delsart, Pascal ; Vanlerberghe, Clémence ; Juthier, Francis...
Annals of Vascular Surgery.  77 (2021)  - p. 348.e7-348.e11 , 2021
Link: https://doi.org/10.1016/..
 
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9

Phenotypic spectrum of TGFB3 disease‐causing variants in a ..:

Marsili, Luisa ; Overwater, Eline ; Hanna, Nadine...
Clinical Genetics.  97 (2020)  5 - p. 723-730 , 2020
Link: https://doi.org/10.1111/..
 
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10

Multiplex targeted high‐throughput sequencing in a series o..:

Jourdain, Anne‐Sophie ; Petit, Florence ; Odou, Marie‐Françoise...
Human Mutation.  41 (2019)  1 - p. 222-239 , 2019
Link: https://doi.org/10.1002/..
 
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11

Holt-Oram syndrome: clinical and molecular description of 7..:

Vanlerberghe, Clémence ; Jourdain, Anne-Sophie ; Ghoumid, Jamal...
European Journal of Human Genetics.  27 (2018)  3 - p. 360-368 , 2018
Link: https://doi.org/10.1038/..
 
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12

Delineating the psychiatric and behavioral phenotype of rec..:

Wolfe, Kate ; McQuillin, Andrew ; Alesi, Viola...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  177 (2018)  4 - p. 397-405 , 2018
Link: https://doi.org/10.1002/..
 
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13

19p13 microduplications encompassing NFIX are responsible f..:

Trimouille, Aurélien ; Houcinat, Nada ; Vuillaume, Marie-Laure...
European Journal of Human Genetics.  26 (2017)  1 - p. 85-93 , 2017
Link: https://doi.org/10.1038/..
 
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14

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-r..:

Ghoumid, Jamal ; Petit, Florence ; Boute-Benejean, Odile...
European Journal of Human Genetics.  25 (2017)  8 - p. 1011-1014 , 2017
Link: https://doi.org/10.1038/..
 
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15

Blepharocheilodontic syndrome is a CDH1 pathway–related dis..:

Ghoumid, Jamal ; Stichelbout, Morgane ; Jourdain, Anne-Sophie...
Genetics in Medicine.  19 (2017)  9 - p. 1013-1021 , 2017
Link: https://doi.org/10.1038/..
 
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