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69
datasets available to search
ShareScore release 0.9.0
Dataset results
69 results for “biallelic”
RNA-seq of RB1-biallelic inactivation mice and HCC cell lines treated with drug
GEO Series GSE306330. Homo sapiens. 36 samples. Type: Expression profiling by high throughput sequencing.
Biallelic variant in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations through altered WNT signalling
GEO Series GSE190621. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Dataset related to article "Multifaceted and age-dependent phenotypes associated with biallelic PNPLA6 gene variants: eight novel cases and review of the literature."
<p>Genetic data in VCF format and Sanger electropherograms of an Italian patient with spastic ataxia phenotype</p>
DATASET RELATED TO ARTICLE "MONOALLELIC AND BIALLELIC MUTATIONS IN RELN UNDERLIE A GRADED SERIES OF NEURODEVELOPMENTAL DISORDERS
<p>clinical data of a single RELN case patient followed at Fondazione Besta involved in the study at title</p>
DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature"
<p>Description of clinical and genetic data of eight PNPLA6 patients diagnosed at Besta Institute and summary of the literature previuos data for patients with the same disease.</p>
Biallelic variants in SREK1 downregulating SNORD115/116 cause a novel Prader-Willi-like syndrome
GEO Series GSE292889. Homo sapiens. 11 samples. Type: Expression profiling by high throughput sequencing.
Gene expression profile of patient with biallelic BRF2 mutation
GEO Series GSE280147. Homo sapiens. 2 samples. Type: Expression profiling by high throughput sequencing.
dataset related to article "Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations"
<p>dataset contains Sanger electropherograms of the HSPB1 p.S135F and p.R136L mutations</p> <p> </p>
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
GEO Series GSE228834. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
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.