Publications by authors named "Pascaline Létard"

7Publications

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Eur J Med Genet 2020 Apr 23;63(4):103814. Epub 2019 Nov 23.

Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103814DOI Listing
April 2020

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Am J Med Genet A 2018 11 17;176(11):2325-2330. Epub 2018 Oct 17.

Unité fonctionnelle de fœtopathologie, Département de génétique, CHU Robert Debré, Assistance Publique - Hôpitaux de Paris, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40505
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http://dx.doi.org/10.1002/ajmg.a.40505DOI Listing
November 2018

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

J Inherit Metab Dis 2018 11 28;41(6):937-946. Epub 2018 Aug 28.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1007/s10545-018-0243-7DOI Listing
November 2018