tallózása szerző szerint "Eggermann T"

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NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features

Sachwitz J; Meyer R; Fekete, György; Spranger S; Matuleviciene A; Kucinskas V; Bach A; Luczay, Andrea; Bruchle NO; Eggermann K; Zerres K; Elbracht M; Eggermann T (2017)

Silver-Russell syndrome (SRS) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly ...
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

Meyer R; Soellner L; Begemann M; Dicks S; Fekete, György; Rahner N; Zerres K; Elbracht M; Eggermann T (2017)

OBJECTIVE: To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing. STUDY DESIGN: Forty-seven patients referred for molecular testing ...

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