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Unknown19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Not available
S-EPMC5838975 | biostudies-literature
UnknownUltrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Not available
S-EPMC7733833 | biostudies-literature
UnknownPhenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Not available
S-EPMC9132874 | biostudies-literature
UnknownPathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Not available
S-EPMC11339626 | biostudies-literature
UnknownEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Not available
S-EPMC10853222 | biostudies-literature
UnknownDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Not available
S-EPMC12165858 | biostudies-literature
UnknownHydroxychloroquine in mild-to-moderate coronavirus disease 2019: a placebo-controlled double blind trial.
Not available
S-EPMC8015393 | biostudies-literature
UnknownSystematic analysis of blood cell transcriptome in end-stage chronic respiratory diseases.
Not available
S-EPMC4203719 | biostudies-literature
UnknownPOSTER AWARD WINNER EDUCATION : SCI-U: AN INNOVATIVE APPROACH TO ONLINE PATIENT EDUCATION IN SPINAL CORD INJURY
Not available
S-EPMC3459571 | biostudies-literature
UnknownSarilumab in patients admitted to hospital with severe or critical COVID-19: a randomised, double-blind, placebo-controlled, phase 3 trial.
Not available
S-EPMC8078879 | biostudies-literature
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