Anna Le Fevre
3PUBLICATIONS
78CO-AUTHORS
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Publications (3)
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|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Jan 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.Merel A Post, Isis de Wit, Fokje S M Zijlstra
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