The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders-Reference-Cited by-同舟云学术

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

Published:2021-12 Issue: Volume:29 Page:100812
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Delanne Julian,Bruel Ange-Line,Huet Frédéric,Moutton Sébastien,Nambot Sophie,Grisval Margot,Houcinat Nada,Kuentz Paul,Sorlin Arthur,Callier Patrick,Jean-Marcais Nolwenn,Mosca-Boidron Anne-Laure,Mau-Them Frédéric Tran,Denommé-Pichon Anne-Sophie,Vitobello Antonio,Lehalle Daphné,El Chehadeh Salima,Francannet Christine,Lebrun Marine,Lambert Laetitia,Jacquemont Marie-Line,Gerard-Blanluet Marion,Alessandri Jean-Luc,Willems Marjolaine,Thevenon Julien,Chouchane Mondher,Darmency Véronique,Fatus-Fauconnier Clémence,Gay Sébastien,Bournez Marie,Masurel Alice,Leguy Vanessa,Duffourd Yannis,Philippe Christophe,Feillet François,Faivre Laurence,Thauvin-Robinet Christel

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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