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UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
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S-EPMC9830697 | biostudies-literature
UnknownLUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
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S-EPMC10811831 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
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S-EPMC10506156 | biostudies-literature
UnknownTocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
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S-EPMC8084355 | biostudies-literature
UnknownBaricitinib in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial and updated meta-analysis.
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S-EPMC9333998 | biostudies-literature
UnknownGlobal variation in anastomosis and end colostomy formation following left-sided colorectal resection.
Not available
S-EPMC6921967 | biostudies-literature
UnknownGain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
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S-EPMC9484401 | biostudies-literature
UnknownBi-allelic variants in INTS11 are associated with a complex neurological disorder.
Not available
S-EPMC10183469 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
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S-EPMC8222855 | biostudies-literature
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