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UnknownBeyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
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S-EPMC10720148 | biostudies-literature
UnknownAdult genomic medicine: lessons from a multisite study of 2700 patients.
Not available
S-EPMC12477811 | biostudies-literature
UnknownBiallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Not available
S-EPMC10690011 | biostudies-literature
UnknownBi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
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S-EPMC10806450 | biostudies-literature
UnknownPrognostic evaluation of quick sequential organ failure assessment score in ICU patients with sepsis across different income settings.
Not available
S-EPMC10804657 | biostudies-literature
UnknownStoma-free Survival After Rectal Cancer Resection With Anastomotic Leakage: Development and Validation of a Prediction Model in a Large International Cohort.
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S-EPMC10549897 | biostudies-literature
UnknownClimate Effects on Belowground Tea Litter Decomposition Depend on Ecosystem and Organic Matter Types in Global Wetlands.
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S-EPMC11636250 | biostudies-literature
UnknownGlobal Incidence and Risk Factors Associated With Postoperative Urinary Retention Following Elective Inguinal Hernia Repair: The Retention of Urine After Inguinal Hernia Elective Repair (RETAINER I) Study.
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S-EPMC10323764 | biostudies-literature
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
UnknownOutcomes 1 year after non-operative management of uncomplicated appendicitis in children: Children with AppendicitiS during the CoronAvirus panDEmic (CASCADE) study.
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S-EPMC10236944 | biostudies-literature
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