C. de Baracé

发表

Prognostic value of EEG in very premature newborns

A. Furby, A Le Bihannic, K Beauvais, 2011, Archives of Disease in Childhood: Fetal and Neonatal Edition.

New CACNA1A Gene Mutation in a Case of Familial Hemiplegic Migraine with Status epilepticus

M. Tardieu, E. Tournier-Lasserve, A. Furby, 2004, European Neurology.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

M. Polak, N. Boddaert, A. Brice, 2017, Journal of Medical Genetics.

Molecular Basis of a Selective C1s Deficiency Associated with Early Onset Multiple Autoimmune Diseases1

W. Fridman, A. Prieur, P. Quartier, 2001, The Journal of Immunology.

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations

L. Pasquier, E. Tournier-Lasserve, S. Odent, 2014, Clinical genetics.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France

P. Derambure, P. Kahane, C. Marchal, 2016, Epilepsia.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

A. Brice, V. Drouin‐Garraud, C. Thauvin, 2014, Orphanet Journal of Rare Diseases.

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

S. Lyonnet, P. de Lonlay, D. Bonnet, 2009, Journal of Medical Genetics.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.