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Dubourg, Christèle
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1

Impact of Sonic Hedgehog‐dependent sphenoid bone defect on ..:

Guyodo, Hélène ; Rizzo, Aurélie ; Diab, Farah...
Clinical and Experimental Dental Research.  10 (2024)  2 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Differential alternative splicing analysis links variation ..:

Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice...
Genetics in Medicine.  26 (2024)  4 - p. 101059 , 2024
Link: https://doi.org/10.1016/..
 
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3

Loss-of-function variants affecting the STAGA complex compo..:

Kopp, Johannes ; Koch, Leonard A. ; Lyubenova, Hristiana...
Human Genetics.  143 (2024)  5 - p. 683-694 , 2024
Link: https://doi.org/10.1007/..
 
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4

Mono-allelic KCNB2 variants lead to a neurodevelopmental sy..:

Bhat, Shreyas ; Rousseau, Justine ; Michaud, Coralie...
The American Journal of Human Genetics.  111 (2024)  4 - p. 761-777 , 2024
Link: https://doi.org/10.1016/..
 
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5

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
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6

Novel variant in LRP6 associated with unusual and severe cl..:

Previdi, Anaïk ; Dubourg, Christèle ; Cormier Daire, Valérie..
Clinical Genetics.  105 (2024)  6 - p. 666-670 , 2024
Link: https://doi.org/10.1111/..
 
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7

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open.  2 (2024)  - p. 101469 , 2024
Link: https://doi.org/10.1016/..
 
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8

Discovering a new part of the phenotypic spectrum of Coffin..:

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline...
Genetics in Medicine.  25 (2023)  2 - p. 100004 , 2023
Link: https://doi.org/10.1016/..
 
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9

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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10

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine.  25 (2023)  11 - p. 100962 , 2023
Link: https://doi.org/10.1016/..
 
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11

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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12

Fetal Description of the Pancreatic Agenesis and Holoprosen..:

Cospain, Auriane ; Faoucher, Marie ; Cauchois, Aurélie...
Pediatric and Developmental Pathology.  25 (2022)  5 - p. 548-552 , 2022
Link: https://doi.org/10.1177/..
 
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13

Child with a mild CHIME syndrome phenotype and carrying a n..:

Rolland, Marion ; Dubourg, Christèle ; Cospain, Auriane..
Pediatric Dermatology.  39 (2022)  3 - p. 434-437 , 2022
Link: https://doi.org/10.1111/..
 
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14

DNA methylation episignature in Gabriele-de Vries syndrome:

Cherik, Florian ; Reilly, Jack ; Kerkhof, Jennifer...
Genetics in Medicine.  24 (2022)  4 - p. 905-914 , 2022
Link: https://doi.org/10.1016/..
 
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15

FOSL2 truncating variants in the last exon cause a neurodev..:

Cospain, Auriane ; Rivera-Barahona, Ana ; Dumontet, Erwan...
Genetics in Medicine.  24 (2022)  12 - p. 2475-2486 , 2022
Link: https://doi.org/10.1016/..
 
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