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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
Meyer, R.
;
Begemann, M.
;
Hübner, C.T.
;
Dey, D.
;
Kuechler, A.
;
Elgizouli, M.
;
Schara, U.
;
Ambrozaityte, L.
;
Burnyte, B.
;
Schröder, C.
;
Kenawy, A.
;
Kroisel, P.
;
Demuth, S.
;
Fekete, G. [Fekete, György (Gyermekgyógyászat...), author] II. Department of Pediatrics (SU / FM / C)
;
Opladen, T.
;
Elbracht, M.
;
Eggermann, T. ✉
English Article (Journal Article) Scientific
Published:
ORPHANET JOURNAL OF RARE DISEASES 1750-1172 1750-1172
16
(1)
Paper: 42
2021
SJR Scopus - Medicine (miscellaneous): Q1
Identifiers
MTMT: 31853250
DOI:
10.1186/s13023-021-01683-x
WoS:
000612931000001
Scopus:
85099754279
PubMed:
33482836
Cited in (18)
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2025-04-01 23:56
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