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M C Vincent

Showing results (21-30 of 24) with videos related to

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Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2017
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutationC Guissart, C Dubucs, C Raynal, et al.
Scientific Reports|July 6, 2022
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approachC Liautard-Haag, G Durif, C VanGoethem, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.
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Showing results (21-30 of 24) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 24 results.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2017
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutationC Guissart, C Dubucs, C Raynal, et al.
Scientific Reports|July 6, 2022
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approachC Liautard-Haag, G Durif, C VanGoethem, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.
Pageof 3