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UnknownTranscriptome-wide outlier approach identifies individuals with minor spliceopathies.
Not available
S-EPMC11722475 | biostudies-literature
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownMost common 'sporadic' cancers have a significant germline genetic component.
Not available
S-EPMC4271103 | biostudies-literature
UnknownMetabolic Syndrome and Acute Respiratory Distress Syndrome in Hospitalized Patients With COVID-19.
Not available
S-EPMC8696573 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
UnknownAssociation of Renin Angiotensin Aldosterone System Inhibitors and Outcomes of Hospitalized Patients With COVID-19.
Not available
S-EPMC9469914 | biostudies-literature
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | biostudies-literature
UnknownIgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Not available
S-EPMC6565556 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855 | biostudies-literature
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