Results 171 to 180 of about 122,769 (286)

Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations. [PDF]

open access: yesNat Genet
Tagore S   +6 more
europepmc   +1 more source

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification [PDF]

open access: bronze, 2020
Xiaomin Dong   +16 more
openalex   +1 more source

MTS-LOF: Medical Time-Series Representation Learning via Occlusion-Invariant Features. [PDF]

open access: yesIEEE J Biomed Health Inform
Li H   +4 more
europepmc   +1 more source

Lof der mobiliteit

open access: yesAGORA Magazine, 2014
openaire   +1 more source

ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype. [PDF]

open access: yesHum Genome Var
Yoshimatsu H   +9 more
europepmc   +1 more source

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