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UnknownIdentification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
Not available
S-EPMC5511805 | biostudies-literature
UnknownBiallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Not available
S-EPMC6117612 | biostudies-literature
UnknownBiallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Not available
S-EPMC5294665 | biostudies-literature
UnknownLysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Not available
S-EPMC6562152 | biostudies-literature
UnknownDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Not available
S-EPMC6817525 | biostudies-literature
UnknownCharacteristics of undiagnosed diseases network applicants: implications for referring providers.
Not available
S-EPMC6106923 | biostudies-literature
UnknownDe novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Not available
S-EPMC7118694 | biostudies-literature
UnknownHeterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Not available
S-EPMC6688907 | biostudies-literature
UnknownSpectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Not available
S-EPMC6452443 | biostudies-literature
UnknownBi-allelic variants in INTS11 are associated with a complex neurological disorder.
Not available
S-EPMC10183469 | biostudies-literature
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