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ShareScore release 0.9.0
Dataset results
24 results for “Genotype-phenotype correlation”
Datset related to article "G507D MUTATION IN FUS GENE CAUSES FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS WITH A SPECIFIC GENOTYPE-PHENOTYPE CORRELATION"
<p><strong>NGS_analysis performed at Fondazione Besta carried out as part of the study reported at title</strong></p>
Dataset related to article"G507D MUTATION IN FUS GENE CAUSES FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS WITH A SPECIFIC GENOTYPE-PHENOTYPE CORRELATION"
<p>NGS Analyses of patients included in the study reported at title followed at Fondazione Besta</p>
data set related to article Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
<p>This record contains raw data related to article Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study</p>
Supplemental material for the paper "Genotype-phenotype correlation, clinical presentation, and feminizing surgery in children with congenital adrenal hyperplasia - a nationwide study"
<p>This dataset provides documentation for the translation between historical nomenclature for variants in the CYP21A2 gene to the Human genome variation society nomenclature. </p> <p>Furthermore, it provides data on all Danish CYP21A2 variants included in the study and the translation into genotype groups: Null, A, B, C, and D. </p>
Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa
ClinicalTrials.gov study NCT04727268. IPD Sharing: YES. Countries: 1. Publications: 2.
Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
ClinicalTrials.gov study NCT03716908. IPD Sharing: NO. Countries: 1. Publications: 2.
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
ClinicalTrials.gov study NCT01688895. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Unravelling Stargardt Disease (STGD1): Modelling Genotype-Phenotype Correlations and Unresolved Genetic Variants in iPSC-Derived Retinal Organoids
GEO Series GSE236097. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Integrated network analysis reveals genotype-phenotype correlations in Williams syndrome
GEO Series GSE89594. Homo sapiens. 94 samples. Type: Expression profiling by array.
Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
ClinicalTrials.gov study NCT03662386. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation
ClinicalTrials.gov study NCT02862340. IPD Sharing: NO. Countries: 1. Publications: 0.
Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia
ClinicalTrials.gov study NCT02234791. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Genotype-Phenotype Correlations in Patients With Alport Syndrome
ClinicalTrials.gov study NCT04947813. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
ClinicalTrials.gov study NCT04812119. IPD Sharing: NO. Countries: 2. Publications: 0.
Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
ClinicalTrials.gov study NCT01035424. IPD Sharing: NO. Countries: 1. Publications: 0.
Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
ClinicalTrials.gov study NCT06723925. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
ClinicalTrials.gov study NCT07265895. IPD Sharing: NO. Countries: 1. Publications: 0.
Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia
ClinicalTrials.gov study NCT05160870. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Dystonia Genotype-Phenotype Correlation
ClinicalTrials.gov study NCT03428009. IPD Sharing: YES. Countries: 1. Publications: 0.
Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
ClinicalTrials.gov study NCT02834650. IPD Sharing: Not stated. Countries: 1. Publications: 0.
ScienceDex guides
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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.