About: Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Thing, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
Author	Philippe, Christophe Bruel, Ange-Line (1989-....) Tran Mau-Them, Frédéric (1984-...) Geneviève, David (1970-.... ; médecin) Nambot, Sophie Thévenon, Julien (19..-.... ; médecin) Callier, Patrick (1970-....) Sorlin, Arthur Olivier-Faivre, Laurence (1957-....) Moutton, Sébastien (1984-....) Paulet Masurel, Alice (1978-....) Thauvin-Robinet, Christel (1975-....) Lehalle, Daphné (1984-....) Racine, Caroline Lecoquièrre, François Delanne, Julian Vitobello, Antonio
Bibliographic Citation	Tran Mau-ThemFrederic, MouttonSebastien, RacineCaroline, VitobelloAntonio, BruelAnge-Line, NambotSophie, KushnerSteven, de VrijFemke, LehalleDaphné, Jean-MarçaisNolwenn, LecoquierreFrançois, DelanneJulian, ThevenonJulien, PoeCharlotte, JouanThibaut, ChevarinMartin, GenevièveDavid, WillemsMarjolaine, CoubesChristine, HoucinatNada, Masurel-PauletAlice, Mosca-BoidronAnne-Laure, TisserantEmilie, CallierPatrick, SorlinArthur, DuffourdYannis, FaivreLaurence, PhilippeChristophe, Thauvin-RobinetChristel . Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders . Human Genetics, 2020, 139 (11), pp.1381-1390 . ⟨10.1007/s00439-020-02178-8⟩
Title	Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
dc:date	2020
Digital Object Identifier (DOI)	10.1007/s00439-020-02178-8

Faceted Search & Find service v1.13.91 as of Aug 16 2018

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of May 14 2019, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (70 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software