Papers matching “exome sequencing” in Genetic Syndromes and Imprinting 4
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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 syndrome2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, +10 more
25citations -
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Larissa Bilo, Eguzkine Ochoa, Sunwoo Liv Lee, Daniela Dey, Ingo Kurth, Florian Kraft, +10 more
15citations -
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome2024 JCI Insight article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Avinaash Vickram Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra, Barbara L. Triggs‐Raine, Masanobu Fujimoto, +14 more
9citations
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