Results 91 to 100 of about 1,816 (142)

The peroxisomal importomer can accommodate an intrinsically disordered protein of 1247 residues. [PDF]

open access: yesHistochem Cell Biol
Pedersen MP   +3 more
europepmc   +1 more source

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling. [PDF]

open access: yesEur J Hum Genet
Soriano-Sexto A   +15 more
europepmc   +1 more source

Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum. [PDF]

open access: yesJ Clin Med
Bayanova M   +10 more
europepmc   +1 more source

PEX1<sup>G843D</sup> remains functional in peroxisome biogenesis but is rapidly degraded by the proteasome. [PDF]

open access: yesJ Biol Chem
Sheedy CJ   +8 more
europepmc   +1 more source

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders. [PDF]

open access: yesMol Genet Metab
Cheung ACT   +13 more
europepmc   +1 more source

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics. [PDF]

open access: yesMol Med
Koparir A   +41 more
europepmc   +1 more source

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