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Author/Creator Uguen, Kevin

1. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature. Issue 3 (1st December 2022)

Authors:
Couloigner, Loïc; Planes, Marc; Ka, Chandran; Audebert‐Bellanger, Séverine; Redon, Sylvia; Benech, Caroline; Rouault, Karen; Küry, Sebastien; Peudenier, Sylviane; Autret, Sandrine; Gourlaouen, Isabelle; Bonneau, Dominique; Odent, Sylvie; Bézieau, Stéphane; Gilbert‐Dussardier, Brigitte; Toutain, A...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
377
Record Type:
Journal Article
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2. Diagnostic value of targeted next‐generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele. Issue 12 (23rd October 2017)

Authors:
Uguen, Kevin; Scotet, Virginie; Ka, Chandran; Gourlaouen, Isabelle; L'hostis, Carine; Merour, Marie‐Christine; Cuppens, Tania; Ferec, Claude; Le Gac, Gerald
Journal:
American journal of hematology
Issue:
Volume 92:Issue 12(2017:Dec.)
Page Start:
E664
Record Type:
Journal Article
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3. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Issue 4 (19th January 2023)

Authors:
Masson, Julie; Pebrel‐Richard, Céline; Egloff, Matthieu; Frétigny, Mathilde; Beaumont, Marion; Uguen, Kevin; Rollat‐Farnier, Pierre‐Antoine; Diguet, Flavie; Perthus, Isabelle; Le Gudayer, Gwenaël; Haye, Damien; Dupeyron, Marie‐Noëlle Bonnet; Putoux, Audrey; Raskin‐Champion, Fabienne; Till, Marian...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 4(2023)
Page Start:
401
Record Type:
Journal Article
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4. Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A. Issue 12 (5th November 2019)

Authors:
Guellec, Julie; Elbahnsi, Ahmad; Tertre, Marlene Le; Uguen, Kevin; Gourlaouen, Isabelle; Férec, Claude; Ka, Chandran; Callebaut, Isabelle; Gac, Gerald Le
Journal:
FASEB journal
Issue:
Volume 33:Issue 12(2019)
Page Start:
14625
Record Type:
Journal Article
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