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American Journal of Medical Genetics. Part A
|
May 2, 2024
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis
Sabine Vautier, Jacques Mauillon, Nathalie Parodi, et al.
Familial Cancer
|
January 8, 2022
Detecting inversions in routine molecular diagnosis in MMR genes
Edwige Kasper, Sophie Coutant, Sandrine Manase, et al.
Plos One
|
January 19, 2012
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy
Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, et al.
Familial Cancer
|
February 7, 2025
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients
Julie Amiot, Lara Gubeljak, Agathe Fontaine, et al.
Cancers
|
February 13, 2026
Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple?
Corentin Levacher, Joanna Delfosse, Camille Charbonnier, et al.
European Journal of Cancer (Oxford, England : 1990)
|
August 4, 2018
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations
Edwige Kasper, Emilie Angot, Elodie Colasse, et al.
Journal of Medical Genetics
|
January 9, 2025
Li-Fraumeni syndrome: a germline <i>TP53</i> splice variant reveals a novel physiological alternative transcript
Jeanne Louis, Marion Rolain, Corentin Levacher, et al.
Journal of Medical Genetics
|
October 14, 2020
Blood functional assay for rapid clinical interpretation of germline <i>TP53</i> variants
Sabine Raad, Marion Rolain, Sophie Coutant, et al.
Bulletin Du Cancer
|
January 23, 2025
Bone sarcomas and cancer predisposition syndromes
Camille Tlemsani, Gaëlle Bougeard, Marion Gauthier-Villars, et al.
The Journal of Molecular Diagnostics : JMD
|
July 25, 2025
Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis
Julie Amiot, Corentin Levacher, Louise May Thibaut, et al.
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Search research articles
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Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
May 2, 2024
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis
Sabine Vautier, Jacques Mauillon, Nathalie Parodi, et al.
Familial Cancer
|
January 8, 2022
Detecting inversions in routine molecular diagnosis in MMR genes
Edwige Kasper, Sophie Coutant, Sandrine Manase, et al.
Plos One
|
January 19, 2012
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy
Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, et al.
Familial Cancer
|
February 7, 2025
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients
Julie Amiot, Lara Gubeljak, Agathe Fontaine, et al.
Cancers
|
February 13, 2026
Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple?
Corentin Levacher, Joanna Delfosse, Camille Charbonnier, et al.
European Journal of Cancer (Oxford, England : 1990)
|
August 4, 2018
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations
Edwige Kasper, Emilie Angot, Elodie Colasse, et al.
Journal of Medical Genetics
|
January 9, 2025
Li-Fraumeni syndrome: a germline <i>TP53</i> splice variant reveals a novel physiological alternative transcript
Jeanne Louis, Marion Rolain, Corentin Levacher, et al.
Journal of Medical Genetics
|
October 14, 2020
Blood functional assay for rapid clinical interpretation of germline <i>TP53</i> variants
Sabine Raad, Marion Rolain, Sophie Coutant, et al.
Bulletin Du Cancer
|
January 23, 2025
Bone sarcomas and cancer predisposition syndromes
Camille Tlemsani, Gaëlle Bougeard, Marion Gauthier-Villars, et al.
The Journal of Molecular Diagnostics : JMD
|
July 25, 2025
Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis
Julie Amiot, Corentin Levacher, Louise May Thibaut, et al.
Page
of 2