Results 181 to 190 of about 25,091 (203)

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing. [PDF]

open access: yesClin Case Rep
Nishi E   +9 more
europepmc   +1 more source

Human pathology in NCL

open access: yesBiochimica Et Biophysica Acta - Molecular Basis of Disease, 2013
In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal diseases and the most frequent neurodegenerative diseases but, in adulthood, they represent a small fraction among the neurodegenerative diseases.
Alessandro Simonati
exaly   +2 more sources
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Mitigating soft errors in NCL circuits using a transmission gate

Analog Integrated Circuits and Signal Processing, 2022
Selahattin Sayil, Sayil Selahattin
exaly  

From genes to systems: New global strategies for the characterization of NCL biology

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2006
Anu Jalanko, Jaana Tyynelä
exaly  

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