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在“Elsevier电子期刊”中，命中：3条，耗时：0.0299866 秒

1.Highlighting the impact of cascade carrier testing in cystic fibrosis families

作者：Ingrid Dugu&eacute ; p&eacute ; roux^a ; ^b ; ^c ; ^{ingrid.dugueperoux@univ-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; Carine L'Hostis^a ; ^b ; ^c ; ^{carine.l-hostis@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Marie-Pierre Audr&eacute ; zet^a ; ^b ; ^c ; ^d ; ^{marie-pierre.audrezet@chu-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; Gilles Rault^e ; ^{gilles.rault@perharidy.fr" class="auth_mail" title="E-mail the corresponding author} ; Irè ; ne Frachon^f ; ^{irene.frachon@chu-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; R&eacute ; my Bernard^g ; ^{r.bernard@ch-cornouaille.fr" class="auth_mail" title="E-mail the corresponding author} ; Philippe Parent^h ; ^{philippe.parent@chu-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; Martine Blayauⁱ ; ^{martine.blayau@chu-rennes.fr" class="auth_mail" title="E-mail the corresponding author} ; S&eacute ; bastien Schmitt^j ; ^{sebastien.schmitt@chu-nantes.fr" class="auth_mail" title="E-mail the corresponding author} ; Emmanuelle G&eacute ; nin^a ; ^b ; ^c ; ^d ; ^{emmanuelle.genin@inserm.fr" class="auth_mail" title="E-mail the corresponding author} ; Claude F&eacute ; rec^a ; ^b ; ^c ; ^d ; ^{claude.ferec@univ-brest.fr" class="auth_mail" title="E-mail the corresponding author} ; Virginie Scotet^a ; ^b ; ^c ; ^{virginie.scotet@inserm.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：OR ; odds ratio ; 95% CI ; 95% confidence interval ; GEE ; generalized estimating equations ; NBS ; newborn screening ; SD ; standard deviation

刊名：Journal of Cystic Fibrosis

出版年：2016

2.Cascade testing in families of carriers identified through newborn screening in Western Brittany (France)

作者：Ingrid Dugu&eacute ; p&eacute ; roux^a ; ^b ; ^c ; ^d ; ^{ingrid.dugueperoux@univ-brest.fr} ; Marie-Pierre Audr&eacute ; zet^a ; ^c ; ^d ; Philippe Parent^e ; S&eacute ; verine Audebert-Bellanger^e ; Michel Roussey^f ; Claude F&eacute ; rec^a ; ^b ; ^c ; ^d ; Virginie Scotet^a ; ^b ; ^c

关键词：Family testing ; Carrier ; Cystic fibrosis ; 1-in-4 risk couple ; Newborn screening

刊名：Journal of Cystic Fibrosis

出版年：2013

3.Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation

作者：Dugu&eacute ; p&eacute ; roux ; Ingrid ; Bellis ; Gil ; Lesure ; Jean-Franç ; ois ; Renouil ; Michel ; et. al.

关键词：Cystic fibrosis ; Y122X ; Genotype&ndash ; phenotype ; Reunion Island ; Rare mutations ; 3120+1G&rarrA

刊名：Journal of Cystic Fibrosis

出版年：2004

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