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Molecular Neurobiology|March 2, 2019
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 GeneMárcia Polese-Bonatto, Hugo Bock, Ana Carolina S Farias, et al.
Genetics and Molecular Biology|April 26, 2014
New microdeletion and microduplication syndromes: A comprehensive reviewJulián Nevado, Rafaella Mergener, María Palomares-Bralo, et al.
European Journal of Medical Genetics|September 2, 2021
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findingsAndressa Barreto Glaeser, Bruna Lixinski Diniz, Andressa Schneiders Santos, et al.
Elife|February 24, 2022
Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteomeWouter Huiting, Suzanne L Dekker, Joris C J van der Lienden, et al.
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