Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
France Tuffery-Giraud
,
Christophe Béroud
,
France Leturcq
,
Rabah Ben Yaou
,
Dalil Hamroun
et al.
Journal articles
hal-01681838v1
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Genomic variations integrated database for MUTYH -associated adenomatous polyposis
Philippe Grandval
,
Aurelie J Fabre
,
Pascaline Gaildrat
,
Stéphanie Baert-Desurmont
,
Martine Blayau
et al.
Journal articles
hal-01681775v1
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CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes
Ayman El-Seedy
,
Emmanuelle Girodon
,
Caroline Norez
,
Julie Pajaud
,
Marie-Claude Pasquet
et al.
Journal articles
istex
hal-02446189v1
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Highlighting the impact of cascade carrier testing in cystic fibrosis families
Ingrid Duguépéroux
,
Carine L'Hostis
,
Marie-Pierre Audrézet
,
Gilles Rault
,
Irène Frachon
et al.
Journal of Cystic Fibrosis , 2016, 15 (4), pp.452-459
Journal articles
hal-02042301v1
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Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
Ingrid Duguépéroux
,
Virginie Scotet
,
Marie-Pierre Audrézet
,
Anne-Hélène Saliou
,
Michel Collet
et al.
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istex
hal-00931899v1
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Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation
Patrick R Benusiglio
,
Chystelle Colas
,
Etienne Rouleau
,
Nancy Uhrhammer
,
Pierre Romero
et al.
Journal articles
hal-01647109v1
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The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations
Philippe Grandval
,
Martine Blayau
,
Marie-Pierre Buisine
,
Florence Coulet
,
Christine Maugard
et al.
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istex
hal-01681788v1
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p.Ser1235Arg should no longer be considered as a Cystic Fibrosis mutation: results from a large collaborative study
Celine Rene
,
Damien Paulet
,
Emmanuelle Girodon
,
Catherine Costa
,
Guy Lalau
et al.
Journal articles
hal-00567037v1
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Insuffisance ovarienne prématurée chez deux patientes présentant une délétion Xq
Vincent Jauffret
,
Célia Ravel
,
Elouan Chérot
,
Christèle Dubourg
,
Martine Blayau
et al.
Morphologie , 2015, 20es Journées du Collège des Histologistes, Embryologistes et Cytogénéticiens - Paris 12-14 mars 2015, 99 (327), pp.168.
⟨10.1016/j.morpho.2015.09.043⟩
Journal articles
hal-01245011v1
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