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Brain & Development|May 15, 2010
Neonatal status epilepticus due to lamination disorder without significant cell deathHélène Ansart-Franquet, Louise Devisme, Claude-Alain Maurage, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndromeMustafa Ghanim, Sylvie Rossignol, Bruno Delobel, et al.
The Journal of Pediatrics|June 27, 2020
Association of Chorioamnionitis with Cerebral Palsy at Two Years after Spontaneous Very Preterm Birth: The EPIPAGE-2 Cohort StudyEmeline Maisonneuve, Elsa Lorthe, Héloïse Torchin, et al.
Prenatal Diagnosis|February 12, 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhageThibault Coste, Catherine Vincent-Delorme, Morgane Stichelbout, et al.
Human Reproduction (Oxford, England)|August 16, 2011
Contribution of referent pathologists to the quality of trophoblastic diseases diagnosisFrancois Golfier, Jessica Clerc, Touria Hajri, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritanceDavid Chitayat, Hana Sroka, Sarah Keating, et al.
American Journal of Medical Genetics. Part A|August 12, 2014
Fetal phenotype associated with the 22q11 deletionAnne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, et al.
Human Pathology|May 11, 2020
p57-discordant villi in hydropic products of conception: a clinicopathological study of 70 casesLucie Gaillot-Durand, Sophie Patrier, Jacqueline Aziza, et al.
Clinical Genetics|July 2, 2021
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndromeLeïla Ghesh, Marie Denis Musquer, Louise Devisme, et al.
European Journal of Medical Genetics|June 4, 2011
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counsellingAli Houeijeh, Joris Andrieux, Pascale Saugier-Veber, et al.
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