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Houdayer, Claude
322  Ergebnisse:
Personensuche X
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1

SMAD4 mosaicism in juvenile polyposis: Essential contributi..:

Vautier, Sabine ; Mauillon, Jacques ; Parodi, Nathalie...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Predicting the impact of rare variants on RNA splicing in C..:

Lord, Jenny ; Oquendo, Carolina Jaramillo ; Wai, Htoo A....
Human Genetics.  , 2024
Link: https://doi.org/10.1007/..
 
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3

P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic fr..:

Parsons, Michael ; Anderson, Michael ; Berkofsky-Fessler, Windy...
Genetics in Medicine Open.  1 (2023)  1 - p. 100095 , 2023
Link: https://doi.org/10.1016/..
 
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4

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/..
 
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5

EPID-04. PREDCAP, the French registry of predisposition to ..:

Guerrini-Rousseau, Lea ; Hoarau, Pauline ; Bougeard, Gaelle...
Neuro-Oncology.  24 (2022)  Supplement_1 - p. i47-i47 , 2022
Link: https://doi.org/10.1093/..
 
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6

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/..
 
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7

Cancer risks by sex and variant type in PTEN hamartoma tumo..:

Hendricks, Linda A J ; Hoogerbrugge, Nicoline ; Mensenkamp, Arjen R...
JNCI: Journal of the National Cancer Institute.  115 (2022)  1 - p. 93-103 , 2022
Link: https://doi.org/10.1093/..
 
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8

Assessment of Multiplex Digital Droplet RT-PCR as a Diagnos..:

Cassinari, Kévin ; Alessandri-Gradt, Elodie ; Chambon, Pascal...
Clinical Chemistry.  67 (2021)  5 - p. 736-741 , 2021
Link: https://doi.org/10.1093/..
 
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9

Molecular diagnosis of retinoblastoma by circulating tumor ..:

Jiménez, Irene ; Frouin, Éléonore ; Chicard, Mathieu...
European Journal of Cancer.  154 (2021)  - p. 277-287 , 2021
Link: https://doi.org/10.1016/..
 
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10

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in..:

Caputo, Sandrine ; Telly, Dominique ; Briaux, Adrien...
Cancers.  13 (2021)  13 - p. 3171 , 2021
Link: https://doi.org/10.3390/..
 
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11

Further delineation of the NTHL1 associated syndrome: A rep..:

Boulouard, Flavie ; Kasper, Edwige ; Buisine, Marie‐Pierre...
Clinical Genetics.  99 (2021)  5 - p. 662-672 , 2021
Link: https://doi.org/10.1111/..
 
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12

The Spectrum of FANCM Protein Truncating Variants in Europe..:

Figlioli, Gisella ; Kvist, Anders ; Tham, Emma...
Cancers.  12 (2020)  2 - p. 292 , 2020
Link: https://doi.org/10.3390/..
 
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13

Reply to Kratz et al:

Frebourg, Thierry ; Lagercrantz, Svetlana Bajalica ; Oliveira, Carla...
European Journal of Human Genetics.  28 (2020)  11 - p. 1483-1485 , 2020
Link: https://doi.org/10.1038/..
 
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14

Lack of evidence for CDK12 as an ovarian cancer predisposin..:

Eeckhoutte, Alexandre ; Saint-Ghislain, Mathilde ; Reverdy, Manon...
Familial Cancer.  19 (2020)  3 - p. 203-209 , 2020
Link: https://doi.org/10.1007/..
 
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15

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/..
 
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