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Dupin-Deguine, D.
87  results:
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1

Genotypic and phenotypic analysis of 24 patients presenting..:

Bloch, A. ; Ghanem, R. ; Durand, B....
Archives of Cardiovascular Diseases.  117 (2024)  1 - p. S45 , 2024
Link: https://doi.org/10.1016/..
 
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2

Bilateral tympanic myxoma: A CARE case report:

Gallois, Y. ; Siegfried, A. ; Dupin-Deguine, D..
European Annals of Otorhinolaryngology, Head and Neck Diseases.  140 (2023)  1 - p. 43-45 , 2023
Link: https://doi.org/10.1016/..
 
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3

Dermatologic manifestations in paediatric neurofibromatosis..:

Legoupil, S. ; Bessis, D. ; Picard, F....
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

P1247FLNC pathogenic variants in patients with various card..:

Ader, F ; De Groote, P ; Reant, P...
European Heart Journal.  40 (2019)  Supplement_1 - p. , 2019
Link: https://doi.org/10.1093/..
 
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5

Combined genetic approaches yield a 48% diagnostic rate in ..:

Baux, D. ; Vaché, C. ; Blanchet, C....
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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6

Les mutations SOX10 responsables de l'association des syndr..:

Pingault, V. ; Bodereau, V. ; Baral, V....
Annales d'Endocrinologie.  74 (2013)  4 - p. 281 , 2013
Link: https://doi.org/10.1016/..
 
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7

Descriptive study of the clinical and myocardial status of ..:

Brette, Jean-Baptiste ; Colombat, Magali ; Fournier, Pauline...
Cardiovascular Pathology.  , 2024
Link: https://doi.org/10.1016/..
 
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8

The Study of a 231 French Patient Cohort Significantly Exte..:

Mansard, Luke ; Baux, David ; Vaché, Christel...
International Journal of Molecular Sciences.  22 (2021)  24 - p. 13294 , 2021
Link: https://doi.org/10.3390/..
 
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9

Searching for secondary findings: considering actionability..:

Isidor, Bertrand ; Julia, Sophie ; Saugier-Veber, Pascale...
European Journal of Human Genetics.  27 (2019)  10 - p. 1481-1484 , 2019
Link: https://doi.org/10.1038/..
 
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10

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome..:

Pingault, Veronique ; Bodereau, Virginie ; Baral, Viviane...
The American Journal of Human Genetics.  92 (2013)  5 - p. 707-724 , 2013
Link: https://doi.org/10.1016/..
 
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11

Dermatologic manifestations in paediatric neurofibromatosis..:

S. Legoupil ; D. Bessis ; F. Picard...
https://doi.org/10.1186/s13023-022-02379-6.  , 2022
Link: https://doi.org/10.1186/..
 
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12

Dermatologic manifestations in paediatric neurofibromatosis..:

Legoupil, S ; Bessis, D ; Picard, F...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210598/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

Combined genetic approaches yield a 48% diagnostic rate in ..:

Baux, D ; Vache, C ; Blanchet, Christophe...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41598-017-16846-9.  , 2017
Link: https://hal.science/hal-..
 
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14

Combined genetic approaches yield a 48% diagnostic rate in ..:

Baux, D ; Vaché, C ; Blanchet, C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5711943/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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15

Combined genetic approaches yield a 48% diagnostic rate in ..:

Baux, D ; Vache, C ; Blanchet, Christophe...
info:eu-repo/semantics/altIdentifier/pmid/29196752.  , 2017
Link: https://hal.archives-ouv..
 
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