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142
datasets available to search
ShareScore release 0.9.0
Dataset results
142 results for “Phenotypic syndrome”
Single-cell sequencing reveals the relationship between phenotypes and genotypes of Klinefelter syndrome
GEO Series GSE136353. Homo sapiens. 1 samples. Type: Expression profiling by high throughput sequencing.
Aortic smooth muscle cell phenotype modulation during Marfan syndrome aneurysm formation
GEO Series GSE153534. Homo sapiens; Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
Monocyte and Macrophage Transcriptional Phenotypes in Systemic Juvenile Idiopathic Arthritis Reveal TRIM8 as a Mediator of IFN-γ Hyper-responsiveness and Risk for Macrophage Activation Syndrome
GEO Series GSE147795. Homo sapiens. 242 samples. Type: Expression profiling by high throughput sequencing.
Hematological phenotypes in GATA2 deficiency syndrome arise from aging, maladaptation to proliferation and somatic events
GEO Series GSE288116. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
BubR1 allelic effects drive phenotypic heterogeneity in MVA progeria syndrome [10 month old RNA-seq]
GEO Series GSE134780. Mus musculus. 23 samples. Type: Expression profiling by high throughput sequencing.
Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPS cells (SPC positive cells)
GEO Series GSE179898. Homo sapiens. 3 samples. Type: Expression profiling by high throughput sequencing.
Deep phenotyping of Post-infectious Myalgic Encephalomyelitis/Chronic Fatigue Syndrome [Protein plasma]
GEO Series GSE254030. Homo sapiens. 42 samples. Type: Protein profiling by protein array.
Heterozygous carriers of Nijmegen Breakage Syndrome Have a Distinct Gene Expression Phenotype.
GEO Series GSE3894. Homo sapiens. 143 samples. Type: Expression profiling by array.
Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPS cells
GEO Series GSE179900. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Wide phenotypic spectrum of human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations
GEO Series GSE148435. Homo sapiens. 4 samples. Type: Other.
Transcriptomic landscape and metabolic phenotypization of Polydactylous rat with metabolic syndrome after high fat diet challenge
GEO Series GSE164176. Rattus norvegicus. 12 samples. Type: Expression profiling by array.
Mutations in NCAPG2 cause a severe neurodevelopmental syndrome that expands the phenotypic spectrum of condensinopathies
GEO Series GSE122932. Danio rerio. 15 samples. Type: Expression profiling by high throughput sequencing.
Modeling Mowat-Wilson Syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors
GEO Series GSE311389. Homo sapiens. 24 samples. Type: Expression profiling by high throughput sequencing.
Whole blood microarray analysis of pigs showing extreme phenotypes after a porcine reproductive and respiratory syndrome virus infection [7 dpi]
GEO Series GSE69514. Sus scrofa. 100 samples. Type: Expression profiling by array.
Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome
GEO Series GSE58435. Homo sapiens. 10 samples. Type: Expression profiling by array.
Whole blood microarray analysis of pigs showing extreme phenotypes after a porcine reproductive and respiratory syndrome virus infection
GEO Series GSE69515. Sus scrofa. 200 samples. Type: Expression profiling by array.
Opposite phenotypic effects and genetic dosage in mouse models of 16p11.2 deletion and duplication syndromes
GEO Series GSE66468. Mus musculus. 56 samples. Type: Expression profiling by array.
Analysis of the Fetal and Neonatal Transcriptomic and Neurocognitive Phenotype in the Ts1Cje Mouse Model of Down syndrome
GEO Series GSE62538. Mus musculus. 10 samples. Type: Expression profiling by array.
Whole blood microarray analysis of pigs showing extreme phenotypes after a porcine reproductive and respiratory syndrome virus infection [4 dpi]
GEO Series GSE69513. Sus scrofa. 100 samples. Type: Expression profiling by array.
Clinical and instrumental gait phenotyping in subjects with GLUT-1 deficiency syndrome
<p>This is a cross sectional, case - control study.</p> <p>Thirty-four patients have been screened between January 2023 and April 2024.</p> <p>The final study population consisted of 32 GLUT1DS subjects (13 males, 40.6%).</p> <p>The mean age at clinical onset was 2.6±2.7 years, being the seizures the most common type of clinical onset (26 subjects, 81.2%), followed by movement disorders (3 subjects, 9.4%) and paroxysmal eye movements (3 subjects, 9.4%).<span> </span></p> <p>The age at definitive diagnosis was 13.4±12.0 years.</p> <p>At the study enrolment subjects were cognitively impaired, with a mean IQ of 66.0±20.6. Epilepsy was a common clinical finding in this cohort: 7 (21.9%) subjects were on anti-seizure medication, while 14 (43.7%) had seizures during the past 6 months.</p> <p>The primary objective of the study was to assess the difference in inertial gait analysis between GLUT1DS patients and HS. As co-primary outcomes we considered the Harmonic Ratio value and the short-time maximal Lyapunov’s exponent.</p> <p>As secondary outcomes, we planned to evaluate the difference in values of the other trunk acceleration – derived gait indexes.</p> <p>Since we also performed a comprehensive descriptive phenotyping of gait variables and clinical features of GLUT1DS, we also looked for potential correlations between these features and the instrumental indexes.</p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.