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UnknownAnterior gradient protein 2 promotes survival, migration and invasion of papillary thyroid carcinoma cells.
Not available
S-EPMC4094684 | biostudies-literature
UnknownA Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
Not available
S-EPMC6560055 | biostudies-literature
UnknownNovel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.
Not available
S-EPMC5447400 | biostudies-literature
UnknownThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Not available
S-EPMC4932234 | biostudies-literature
UnknownCopy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Not available
S-EPMC6267442 | biostudies-literature
UnknownMYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Not available
S-EPMC4936326 | biostudies-literature
UnknownInterpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Not available
S-EPMC5885217 | biostudies-literature
UnknownBroad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Not available
S-EPMC6158856 | biostudies-literature
UnknownDe novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Not available
S-EPMC10432144 | biostudies-literature
UnknownRole of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Not available
S-EPMC11068103 | biostudies-literature
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