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Lynne Rumping

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Human Molecular Genetics|September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayLynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
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Showing results (11-20 of 13) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 13 results.
Human Molecular Genetics|September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayLynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
Pageof 2