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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
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- Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0082-2
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- Article
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17845-1
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- Article
Beta and Gamma Range EEG Power-Spectrum Correlation with Spiking Discharges in DBA/2J Mice Absence Model: Role of GABA<sub>B</sub> Receptors.
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- Epilepsia (Series 4), 2006, v. 47, n. 3, p. 489, doi. 10.1111/j.1528-1167.2006.00456.x
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- Article
EMdeCODE: a novel algorithm capable of reading words of epigenetic code to predict enhancers and retroviral integration sites and to identify H3R2me1 as a distinctive mark of coding versus non-coding genes.
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- Nucleic Acids Research, 2013, v. 41, n. 3, p. e48, doi. 10.1093/nar/gks1214
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- Article
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25805-y
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- Article
Limited evidence for blood eQTLs in human sexual dimorphism.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01088-w
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- Article
Perturbations of Heart Development and Function in Cardiomyocytes from Human Embryonic Stem Cells with Trisomy 21.
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- Stem Cells, 2015, v. 33, n. 5, p. 1434, doi. 10.1002/stem.1961
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- Article
pyTWMR: transcriptome-wide Mendelian randomization in python.
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- Bioinformatics, 2024, v. 40, n. 8, p. 1, doi. 10.1093/bioinformatics/btae505
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- Article
Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141630
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- Article
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.
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- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135555
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- Article
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.
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- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126475
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- Article
Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112745
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- Article
A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture.
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- PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010419
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- Article
Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans.
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- PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001430
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- Article
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12273-8
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- Article
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10936-0
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- Article
PD-L1 Expression in Pituitary Neuroendocrine Tumors/Pituitary Adenomas.
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- Cancers, 2023, v. 15, n. 18, p. 4471, doi. 10.3390/cancers15184471
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- Article
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
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- European Journal of Endocrinology, 2018, v. 178, n. 4, p. 377, doi. 10.1530/EJE-17-0568
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- Article
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
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- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10598-3
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- Article
CATCHing putative causative variants in consanguineous families.
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- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0727-5
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- Article
TRIM5 is an innate immune sensor for the retrovirus capsid lattice.
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- Nature, 2011, v. 472, n. 7343, p. 361, doi. 10.1038/nature09976
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- Article
AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts.
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- Nucleic Acids Research, 2005, v. 33, n. suppl 2, p. w665, doi. 10.1093/nar/gki448
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- Article
Deciphering the Code for Retroviral Integration Target Site Selection.
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- PLoS Computational Biology, 2010, v. 6, n. 11, p. 1, doi. 10.1371/journal.pcbi.1001008
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- Article
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
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- Briefings in Bioinformatics, 2022, v. 23, n. 2, p. 1, doi. 10.1093/bib/bbac049
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- Article
Extrachromosomal driver mutations in glioblastoma and low-grade glioma.
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- Nature Communications, 2014, v. 5, n. 12, p. 5690, doi. 10.1038/ncomms6690
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- Article
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.
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- Nature Communications, 2014, v. 5, n. 8, p. 4654, doi. 10.1038/ncomms5654
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- Article
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
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- Human Molecular Genetics, 2022, v. 31, n. 1, p. 1, doi. 10.1093/hmg/ddab026
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- Article
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
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- Human Molecular Genetics, 2020, v. 29, n. 7, p. 1132, doi. 10.1093/hmg/ddaa032
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- Article
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
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- Human Molecular Genetics, 2020, v. 29, n. 4, p. 618, doi. 10.1093/hmg/ddz303
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- Article
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 972, doi. 10.1093/hmg/ddy406
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- Article
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
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- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2703, doi. 10.1093/hmg/ddy180
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- Article
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3143, doi. 10.1093/hmg/ddv065
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- Article
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 4, p. 283, doi. 10.1159/000437378
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- Article
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation.
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- Nature, 2015, v. 526, n. 7572, p. 212, doi. 10.1038/nature15399
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- Article
Domains of genome-wide gene expression dysregulation in Down's syndrome.
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- Nature, 2014, v. 508, n. 7496, p. 345, doi. 10.1038/nature13200
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- Article
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.
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- Pediatric Diabetes, 2019, v. 20, n. 3, p. 366, doi. 10.1111/pedi.12814
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- Article
The effect of genetic variation on promoter usage and enhancer activity.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01467-7
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- Article
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004340
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- Article
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
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- Human Mutation, 2019, v. 40, n. 3, p. 267, doi. 10.1002/humu.23694
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- Article
Cover Image, Volume 40, Issue 3.
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- Human Mutation, 2019, v. 40, n. 3, p. i, doi. 10.1002/humu.22892
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- Article
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families.
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- Human Mutation, 2014, v. 35, n. 10, p. 1203, doi. 10.1002/humu.22617
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- Article
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
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- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1424753
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- Article
Fasting induces metabolic switches and spatial redistributions of lipid processing and neuronal interactions in tanycytes.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50913-w
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- Article
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
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- Genes, 2023, v. 14, n. 2, p. 404, doi. 10.3390/genes14020404
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- Article
Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy.
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- Diabetes, 2020, v. 69, n. 5, p. 1065, doi. 10.2337/db19-0974
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- Article
28-OR: Genetic Landscape of Diabetes in the Swiss Population.
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- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-28-OR
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- Article
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.
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- Retrovirology, 2013, v. 10, n. 1, p. 1, doi. 10.1186/1742-4690-10-20
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- Article
HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency.
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- Retrovirology, 2012, v. 9, n. 1, p. 111, doi. 10.1186/1742-4690-9-111
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- Article