Search Results - "Defer I"

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Authors: Labarthe A Doppler S Audrézet MP et al.

Source: Annales d'endocrinologie [Ann Endocrinol (Paris)] 2026 May; Vol. 87 (3), pp. 102519. Date of Electronic Publication: 2026 Mar 19.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Country of Publication: France NLM ID: 0116744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-3941 (Electronic) Linking ISSN: 00034266 NLM ISO Abbreviation: Ann Endocrinol (Paris) Subsets: MEDLINE

New ZNHIT3 Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.

Authors: Rahman ML Bonnard AA Wang F et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 26. Date of Electronic Publication: 2024 Aug 26.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE