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UnknownMutation update for GNE gene variants associated with GNE myopathy.
Not available
S-EPMC4172345 | biostudies-literature
UnknownSialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
Not available
S-EPMC4160177 | biostudies-literature
UnknownIdentification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
Not available
S-EPMC5083180 | biostudies-literature
UnknownDeficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.
Not available
S-EPMC7272357 | biostudies-literature
UnknownBiallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
Not available
S-EPMC5221474 | biostudies-literature
UnknownExome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Not available
S-EPMC5848494 | biostudies-literature
UnknownAtypical presentation of GNE myopathy with asymmetric hand weakness.
Not available
S-EPMC4259851 | biostudies-literature
UnknownNeurologic involvement in patients with atypical Chediak-Higashi disease.
Not available
S-EPMC5584077 | biostudies-literature
UnknownCystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Not available
S-EPMC8378307 | biostudies-literature
UnknownComplex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Not available
S-EPMC4868023 | biostudies-literature
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