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UnknownIdentification of a Nuclear Localization Signal (NLS) in Human Transcription Elongation Factor ELL2.
Not available
S-EPMC11586470 | biostudies-literature
UnknownThe recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Not available
S-EPMC8599376 | biostudies-literature
UnknownMolecular engineering of a secreted, highly homogeneous, and neurotoxic aβ dimer.
Not available
S-EPMC3369749 | biostudies-literature
UnknownAlanine-glyoxylate aminotransferase 2 (AGXT2) polymorphisms have considerable impact on methylarginine and β-aminoisobutyrate metabolism in healthy volunteers.
Not available
S-EPMC3933329 | biostudies-literature
UnknownVariants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.
Not available
S-EPMC5520065 | biostudies-literature
UnknownOral treatment with the d-enantiomeric peptide D3 improves the pathology and behavior of Alzheimer's Disease transgenic mice.
Not available
S-EPMC3368690 | biostudies-literature
UnknownPontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
Not available
S-EPMC7940488 | biostudies-literature
UnknownDe novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Not available
S-EPMC6821231 | biostudies-literature
UnknownPrediction of disability-free survival in healthy older people.
Not available
S-EPMC9213595 | biostudies-literature
UnknownBi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Not available
S-EPMC9388382 | biostudies-literature
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