Results 201 to 210 of about 20,124 (268)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

Systematic identification of single transcription factor perturbations that drive cellular and tissue rejuvenation. [PDF]

open access: yesProc Natl Acad Sci U S A
Sengstack J   +8 more
europepmc   +1 more source

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