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Paper Details

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Mol Genet Metab
37
2017
NDD, PMSE, STRADA, autosomal recessive diseases, brain anomalies, clinical exomes, dystonias, epilepsy, heart defect, hypotonia, macrocephaly, megalencephaly,, nephrocalcinosis, neurodevelopmental and neurometabolic disorders, neurodevelopmental disorders, neurometabolic disorders, patients, polyhydramnios, symptomatic epilepsy, syndromic ID
Author NameAffiliation
Nagarajan ParamasivamHeidelberg University, German Cancer Research Center (DKFZ)
Stefan WiemannGerman Cancer Research Center (DKFZ)
Matthias SchlesnerGerman Cancer Research Center (DKFZ)
Matthias SchlesnerGerman Cancer Research Center (DKFZ)
Roland EilsGerman Cancer Research Center (DKFZ), Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University
Roland EilsGerman Cancer Research Center (DKFZ), Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University
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