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Author/Creator Le Caignec, Cedric

1. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022)

Authors:
Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
445
Record Type:
Journal Article
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2. Familial autosomal dominant severe ankyloglossia with tooth abnormalities. Issue 7 (28th April 2018)

Authors:
Lenormand, Anaëlle; Khonsari, Roman; Corre, Pierre; Perrin, Jean Philippe; Boscher, Cécile; Nizon, Mathilde; Pichon, Olivier; David, Albert; Le Caignec, Cedric; Bertin, Helios; Isidor, Bertrand
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1614
Record Type:
Journal Article
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3. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis. Issue 11 (12th July 2019)

Authors:
Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert‐Desurmont, Stéphanie; Bardel, Claire; Buisine, Marie‐Pierre; Calpena, Eduardo; Capri, Yline; Corominas Galbany, Jordi; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Lévy, Jonathan; Lecoquierre, Fra...
Journal:
Human mutation
Issue:
Volume 40:Issue 11(2019)
Page Start:
1993
Record Type:
Journal Article
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4. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Issue 5 (25th October 2018)

Authors:
Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Mag...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
788
Record Type:
Journal Article
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