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21 .
GENESIS: a French national resource to study the missing heritability of breast cancer
저자
by
Sylvie Mazoyer
;
Valérie Layet
;
Carole Verny-Pierre
;
Claude Adenis
;
Marie-Gabrielle Dondon
, et al.
소스
BMC Cancer
BMC Cancer, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩
BMC Cancer, BioMed Central, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩
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27 .
BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer
저자
by
Florence Joly
;
Audrey Emmanuelle Dugué
;
Florence Polycarpe
;
Alexandra Leconte
;
Valérie Layet
, et al.
소스
Familial cancer
. 16(2)
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27 .
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease
저자
by
Cyril Burin-des-Roziers
;
Pierre-Raphaël Rothschild
;
Antoine P. Brézin
;
S. Valleix
;
Frans P.M. Cremers
, et al.
소스
Human Mutation, 38, 1, pp. 43-47
Human Mutation, 38, 43-47
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27 .
Sirenomelia and caudal malformations in two families
저자
by
Valérie Layet
;
Yves Roumazeilles
;
Daniel Cailliez
;
Bénédicte Gérard
;
Marion Gérard
, et al.
소스
American Journal of Medical Genetics Part A
. :1801-1807
Web of Science
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27 .
Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome
저자
by
M. Herbaut-Graux
;
N. Le Meur
;
Nathalie Leporrier
;
Marianne Till
;
M. Decamp
, et al.
소스
Human Reproduction
. 26:2570-2575
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27 .
Mutational spectrum ofCDKL5in early-onset encephalopathies: a study of a large collection of French patients and review of the literature
저자
by
Philippe Jonveaux
;
Alice Goldenberg
;
Christophe Philippe
;
Fabienne Giuliano
;
Bérénice Doray
, et al.
소스
Clinical Genetics
. 76:357-371
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27 .
Genomic deletions ofOFD1account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing
저자
by
Eric Bieth
;
Alice Masurel-Paulet
;
Bernard Aral
;
Nadège Gigot
;
Brunella Franco
, et al.
소스
Human Mutation
. 30:E320-E329
Web of Science
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27 .
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study
저자
by
Laurence Faivre
;
Delphine Héron
;
L. Van Maldergem
;
Anne Donzel
;
Veronica Cusin
, et al.
소스
Journal of Medical Genetics
. 43:54-61
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27 .
Association between Cowden syndrome and Lhermitte-Duclos disease
저자
by
Annie Laquerrière
;
O. Langlois
;
Pierre Fréger
;
Antoine Layet
;
François Proust
, et al.
소스
Surgical Neurology
. 61:447-454
Scopus
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27 .
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation
저자
by
Sophie Patrier
;
Nathalie Pirot
;
Moutaz Aziz
;
Marie Crahes
;
Thierry Frebourg
, et al.
소스
European journal of medical genetics
. 56(7)
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