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Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
- Published in:
- Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0053-z
- By:
- Publication type:
- Article
Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes.
- Published in:
- 2011
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- Publication type:
- Journal Article
Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes.
- Published in:
- Diabetes/Metabolism Research & Reviews, 2011, v. 27, n. 7, p. 685, doi. 10.1002/dmrr.1221
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- Publication type:
- Article
Voriconazole metabolism is associated with the number of skin cancers per patient.
- Published in:
- Archives of Dermatological Research, 2024, v. 316, n. 6, p. 1, doi. 10.1007/s00403-024-03135-5
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- Publication type:
- Article
Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01038-w
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- Publication type:
- Article
Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Food allergen triggers are increased in children with the TSLP risk allele and eosinophilic esophagitis.
- Published in:
- Clinical & Translational Gastroenterology, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41424-018-0003-x
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- Publication type:
- Article
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16488-6
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- Publication type:
- Article
Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1945, doi. 10.3390/jpm12121945
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- Publication type:
- Article
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1910, doi. 10.3390/jpm12111910
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- Publication type:
- Article
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.756645
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- Publication type:
- Article
Clustering of single-cell multi-omics data with a multimodal deep learning method.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-35031-9
- By:
- Publication type:
- Article
Kaposiform lymphangiomatosis effectively treated with MEK inhibition.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012324
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- Publication type:
- Article
GDF15 is a heart-derived hormone that regulates body growth.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 8, p. 1150, doi. 10.15252/emmm.201707604
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- Publication type:
- Article
Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.
- Published in:
- Application of Clinical Genetics, 2009, v. 2, p. 1
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- Publication type:
- Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0658-5
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- Publication type:
- Article
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 155, doi. 10.1186/s13023-014-0190-9
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- Publication type:
- Article
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
- Published in:
- 2014
- By:
- Publication type:
- journal article
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
CLEC16A —An Emerging Master Regulator of Autoimmunity and Neurodegeneration.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8224, doi. 10.3390/ijms24098224
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- Publication type:
- Article
Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3364, doi. 10.3390/ijms22073364
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- Publication type:
- Article
Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 225, doi. 10.3390/ijms17020225
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- Publication type:
- Article
Effect of micro-osteoperforations on the gene expression profile of the periodontal ligament of orthodontically moved human teeth.
- Published in:
- Clinical Oral Investigations, 2022, v. 26, n. 2, p. 1985, doi. 10.1007/s00784-021-04178-y
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- Publication type:
- Article
Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02368-8
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- Publication type:
- Article
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
- Published in:
- Scientific Data, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41597-019-0339-4
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- Publication type:
- Article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2137
- By:
- Publication type:
- Article
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Saudi Arabian CML patient with a novel four‐way translocation at t(9;22;5;2)(q34;q11.2;p13;q44).
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1865
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- Publication type:
- Article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1956
- By:
- Publication type:
- Article
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1318
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- Publication type:
- Article
Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Functional Neuroimaging Abnormalities in Youth With Psychosis Spectrum Symptoms.
- Published in:
- JAMA Psychiatry, 2015, v. 72, n. 5, p. 456, doi. 10.1001/jamapsychiatry.2014.3169
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- Publication type:
- Article
Neurocognitive Growth Charting in Psychosis Spectrum Youths.
- Published in:
- JAMA Psychiatry, 2014, v. 71, n. 4, p. 366, doi. 10.1001/jamapsychiatry.2013.4190
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- Publication type:
- Article
Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01195-5
- By:
- Publication type:
- Article
Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01064-1
- By:
- Publication type:
- Article
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27641-0
- By:
- Publication type:
- Article
Expansion of Schizophrenia Gene Network Knowledge Using Machine Learning Selected Signals From Dorsolateral Prefrontal Cortex and Amygdala RNA-seq Data.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.797329
- By:
- Publication type:
- Article
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/4140780
- By:
- Publication type:
- Article
ParseCNV integrative copy number variation association software with quality tracking.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 5, p. e64, doi. 10.1093/nar/gks1346
- By:
- Publication type:
- Article
SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 19, p. e132, doi. 10.1093/nar/gkr599
- By:
- Publication type:
- Article
Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 9, p. e62, doi. 10.1093/nar/gkr064
- By:
- Publication type:
- Article
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 16, p. e164, doi. 10.1093/nar/gkq603
- By:
- Publication type:
- Article
Modeling genetic inheritance of copy number variations.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 21, p. e138, doi. 10.1093/nar/gkn641
- By:
- Publication type:
- Article
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 19, p. e126, doi. 10.1093/nar/gkn556
- By:
- Publication type:
- Article
Model-based deep embedding for constrained clustering analysis of single cell RNA-seq data.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22008-3
- By:
- Publication type:
- Article