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GenomicsCIDR Whole Exome Sequencing in Joubert Syndrome

The purpose of this study is to identify new genetic causes of neurodevelopmental diseases (NDDs) in the Joubert syndrome (JS) spectrum. Joubert syndrome is a recessive disease characterized by cerebellar vermis hypoplasia. Our currently funded NINDS award entitled "Molecular characterization of ...

phs000382.v1.p1 | EGA
ProteomicsLongitudinal Analysis of the Lung Proteome Reveals Persistent Repair Months after Mild to Moderate COVID-19
In order to assess the restoration of homeostasis in the lung proteome after COVID-19 infection, we performed bronchoalveolar lavage on 45 patients with mild to moderate disease at three phases (acute, recovery, convalescence) over a year. Changes in proteins were assessed using a multimodal approac...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2024-05-30 | MSV000094898 | MassIVE
UnknownGlobal hospital-based disease management of acute diverticulitis: a prospective, international cohort study.
Not available
S-EPMC12512976 | biostudies-literature
UnknownWhole-genome sequencing reveals host factors underlying critical COVID-19.
Not available
S-EPMC9259496 | biostudies-literature
UnknownMapping the human genetic architecture of COVID-19.
Not available
S-EPMC8674144 | biostudies-literature
UnknownIntraperitoneal drain placement and outcomes after elective colorectal surgery: international matched, prospective, cohort study.
Not available
S-EPMC10364732 | biostudies-literature
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