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Baert-Desurmont, Stéphanie
93
results:
Search for persons
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Format
Online (93)
Mediatypes
E-Books (1)
Articles (Online) (26)
OpenAccess-fulltext (66)
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english (84)
french (9)
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1
Gene-specific ACMG/AMP classification criteria for germline..:
Spier, Isabel
;
Yin, Xiaoyu
;
Richardson, Marcy
...
Genetics in Medicine. 26 (2024) 2 - p. 100992 , 2024
Link:
https://doi.org/10.1016/..
?
2
Report of the sixth meeting of the European Consortium 'Car..:
Guerrini-Rousseau, Léa
;
Gallon, Richard
;
Pineda, Marta
...
Familial Cancer. , 2024
Link:
https://doi.org/10.1007/..
?
3
Disequilibrium between BRCA1 and BRCA2 Circular and Messeng..:
Levacher, Corentin
;
Viennot, Mathieu
;
Drouet, Aurélie
...
Cancers. 15 (2023) 7 - p. 2176 , 2023
Link:
https://doi.org/10.3390/..
?
4
Detecting inversions in routine molecular diagnosis in MMR ..:
Kasper, Edwige
;
Coutant, Sophie
;
Manase, Sandrine
...
Familial Cancer. 21 (2022) 4 - p. 423-428 , 2022
Link:
https://doi.org/10.1007/..
?
5
Genome Alert!: A standardized procedure for genomic variant..:
Yauy, Kevin
;
Lecoquierre, François
;
Baert-Desurmont, Stéphanie
...
Genetics in Medicine. 24 (2022) 6 - p. 1316-1327 , 2022
Link:
https://doi.org/10.1016/..
?
6
Noncoding Aberrations in Mismatch Repair Genes Underlie a S..:
Te Paske, Iris B.A.W.
;
Mensenkamp, Arjen R.
;
Neveling, Kornelia
...
Gastroenterology. 163 (2022) 6 - p. 1691-1694.e7 , 2022
Link:
https://doi.org/10.1053/..
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7
Assessment of branch point prediction tools to predict phys..:
Leman, Raphaël
;
Tubeuf, Hélène
;
Raad, Sabine
...
BMC Genomics. 21 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
8
Detection of copy-number variations from NGS data using rea..:
FREX Consortium
;
Quenez, Olivier
;
Cassinari, Kevin
...
European Journal of Human Genetics. 29 (2020) 1 - p. 99-109 , 2020
Link:
https://doi.org/10.1038/..
?
9
MUTYH-associated polyposis: Review and update of the French..:
Colas, Chrystelle
;
Bonadona, Valérie
;
Baert-Desurmont, Stéphanie
...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104078 , 2020
Link:
https://doi.org/10.1016/..
?
10
National recommendations of the French Genetics and Cancer ..:
Dhooge, Marion
;
Baert-Desurmont, Stéphanie
;
Corsini, Carole
...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104080 , 2020
Link:
https://doi.org/10.1016/..
?
11
Patients with 10q22.3q23.1 recurrent deletion syndrome are ..:
Lecoquierre, François
;
Cassinari, Kévin
;
Chambon, Pascal
...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103773 , 2020
Link:
https://doi.org/10.1016/..
?
12
Mosaic PTEN alteration in the neural crest during embryogen..:
Goldenberg, Alice
;
Marguet, Florent
;
Gilard, Vianney
...
Acta Neuropathologica Communications. 7 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
13
Diversity of genetic events associated with MLH1 promoter m..:
Leclerc, Julie
;
Flament, Cathy
;
Lovecchio, Tonio
...
Genetics in Medicine. 20 (2018) 12 - p. 1589-1599 , 2018
Link:
https://doi.org/10.1038/..
?
14
Optimization of the diagnosis of inherited colorectal cance..:
Baert-Desurmont, Stéphanie
;
Coutant, Sophie
;
Charbonnier, Françoise
...
European Journal of Human Genetics. 26 (2018) 11 - p. 1597-1602 , 2018
Link:
https://doi.org/10.1038/..
?
15
Haplotype analysis suggest that the MLH1 c.2059C > T mutati..:
von Salomé, Jenny
;
Liu, Tao
;
Keihäs, Markku
...
Familial Cancer. 17 (2017) 4 - p. 531-537 , 2017
Link:
https://doi.org/10.1007/..
1-15