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UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | biostudies-literature
UnknownLUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
Not available
S-EPMC10811831 | biostudies-literature
UnknownBiallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Not available
S-EPMC6117612 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Not available
S-EPMC10506156 | biostudies-literature
UnknownLysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Not available
S-EPMC6562152 | biostudies-literature
UnknownCharacteristics of undiagnosed diseases network applicants: implications for referring providers.
Not available
S-EPMC6106923 | biostudies-literature
UnknownA comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Not available
S-EPMC6295275 | biostudies-literature
UnknownIgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Not available
S-EPMC6565556 | biostudies-literature
UnknownEffect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Not available
S-EPMC6481166 | biostudies-literature
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
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