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UnknownNeuronal Antibodies in Children with or without Narcolepsy following H1N1-AS03 Vaccination.
Not available
S-EPMC4474558 | biostudies-literature
UnknownExpanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Not available
S-EPMC8607453 | biostudies-literature
UnknownSuccessful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis.
Not available
S-EPMC6588006 | biostudies-literature
UnknownEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Not available
S-EPMC3928094 | biostudies-literature
UnknownAn international classification of inherited metabolic disorders (ICIMD).
Not available
S-EPMC9021760 | biostudies-literature
UnknownAvailability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.
Not available
S-EPMC6945588 | biostudies-literature
UnknownGenetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Not available
S-EPMC7457149 | biostudies-literature
UnknownDiagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.
Not available
S-EPMC4575273 | biostudies-literature
UnknownAtaluren treatment of patients with nonsense mutation dystrophinopathy.
Not available
S-EPMC4241581 | biostudies-literature
UnknownThe genetic architecture of the human cerebral cortex.
Not available
S-EPMC7295264 | biostudies-literature
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