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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-020-00794-7
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- Article
Correction: Prediction of mortality in very low birth weight neonates in Spain.
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- PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0285353
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- Article
Differential expression of long non‐coding RNAs are related to proliferation and histological diversity in follicular lymphomas.
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- British Journal of Haematology, 2019, v. 184, n. 3, p. 373, doi. 10.1111/bjh.15656
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- Article
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
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- Scientific Reports, 2017, p. 44138, doi. 10.1038/srep44138
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- Article
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02397
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- Article
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45099-0
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- Article
GENE EXPRESSION DATA CLASSIFICATION COMBINING HIERARCHICAL REPRESENTATION AND EFFICIENT FEATURE SELECTION.
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- Journal of Biological Systems, 2012, v. 20, n. 4, p. 349, doi. 10.1142/S0218339012400025
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- Article
Prediction of mortality in very low birth weight neonates in Spain.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0235794
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- Publication type:
- Article
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
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- PLoS Computational Biology, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pcbi.1007784
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- Article
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
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- Biomedicines, 2024, v. 12, n. 5, p. 991, doi. 10.3390/biomedicines12050991
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- Article
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics.
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- Human Mutation, 2019, v. 40, n. 7, p. 865, doi. 10.1002/humu.23772
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- Article
Allele balance bias identifies systematic genotyping errors and false disease associations.
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- Human Mutation, 2019, v. 40, n. 1, p. 115, doi. 10.1002/humu.23674
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- Article
Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).
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- Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297
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- Article