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Author/Creator Letard, Pascaline

1. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Issue 6 (3rd February 2020)

Authors:
Nasser, Hala; Vera, Liza; Elmaleh-Bergès, Monique; Steindl, Katharina; Letard, Pascaline; Teissier, Natacha; Ernault, Anais; Guimiot, Fabien; Afenjar, Alexandra; Moutard, Marie Laure; Héron, Delphine; Alembik, Yves; Momtchilova, Martha; Milani, Paolo; Kubis, Nathalie; Pouvreau, Nathalie; Zollino,...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 6(2020)
Page Start:
389
Record Type:
Journal Article
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2. Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study. Issue 6 (28th August 2018)

Authors:
Semplicini, Claudio; Letard, Pascaline; De Antonio, Marie; Taouagh, Nadjib; Perniconi, Barbara; Bouhour, Françoise; Echaniz‐Laguna, Andoni; Orlikowski, David; Sacconi, Sabrina; Salort‐Campana, Emmanuelle; Solé, Guilhem; Zagnoli, Fabien; Hamroun, Dalil; Froissart, Roseline; Caillaud, Catherine; La...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 6(2018)
Page Start:
937
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Issue 6 (5th April 2021)

Authors:
Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Lauren...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 6(2022)
Page Start:
559
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗