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Author/Creator Ginglinger, Emmanuelle

1. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. Issue 2 (26th October 2015)

Authors:
Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lop...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 2(2016)
Page Start:
98
Record Type:
Journal Article
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2. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Issue 12 (26th October 2017)

Authors:
Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohr...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 12(2017)
Page Start:
830
Record Type:
Journal Article
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3. Functional classification of ATM variants in ataxia‐telangiectasia patients. Issue 10 (17th May 2019)

Authors:
Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie,...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1713
Record Type:
Journal Article
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4. Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Issue 12 (23rd August 2016)

Authors:
Dubourg, Christèle; Carré, Wilfrid; Hamdi‐Rozé, Houda; Mouden, Charlotte; Roume, Joëlle; Abdelmajid, Benmansour; Amram, Daniel; Baumann, Clarisse; Chassaing, Nicolas; Coubes, Christine; Faivre‐Olivier, Laurence; Ginglinger, Emmanuelle; Gonzales, Marie; Levy‐Mozziconacci, Annie; Lynch, Sally‐Ann; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 12(2016)
Page Start:
1329
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗