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Muscle & Nerve|November 1, 2005
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN geneNathalie Chastan, Stéphanie Baert-Desurmont, Pascale Saugier-Veber, et al.
Case Reports in Obstetrics and Gynecology|June 17, 2015
Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic StudiesEdgardo Corral, Andres Barrios, Monica Isnard, et al.
Acta Neuropathologica|April 9, 2010
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotypeMagalie Lecourtois, Karine Poirier, Gaëlle Friocourt, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletionPascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, et al.
European Journal of Medical Genetics|May 7, 2013
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammationMarie Crahes, Pascale Saugier-Veber, Sophie Patrier, et al.
European Journal of Medical Genetics|November 27, 2019
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1BPascale Saugier-Veber, Florent Marguet, Myriam Vezain, et al.
European Journal of Medical Genetics|November 26, 2009
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?Thomas Edouard, Catherine Prost-Squarcioni, Yves Dulac, et al.
Molecular Autism|August 27, 2013
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndromeSylvie Tordjman, George M Anderson, David Cohen, et al.
Neurogenetics|January 8, 2021
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variantIdriss Bousquet, Muriel Bozon, Valérie Castellani, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmusJamal Ghoumid, Joris Andrieux, Bernard Sablonnière, et al.
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