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Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 12, p. 645, doi. 10.1002/gcc.22678
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- Article
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
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- Movement Disorders, 2012, v. 27, n. 4, p. 539, doi. 10.1002/mds.24020
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- Publication type:
- Article
Evaluation of an RNAseq-Based Immunogenomic Liquid Biopsy Approach in Early-Stage Prostate Cancer.
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- Cells (2073-4409), 2021, v. 10, n. 10, p. 2567, doi. 10.3390/cells10102567
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- Publication type:
- Article
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
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- Pediatric Nephrology, 2019, v. 34, n. 9, p. 1607, doi. 10.1007/s00467-019-04256-0
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- Article
HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
- Published in:
- 2023
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- Publication type:
- Letter to the Editor
Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma.
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- 2016
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- Publication type:
- journal article
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2318, doi. 10.1093/hmg/ddu749
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- Publication type:
- Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
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- Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429
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- Publication type:
- Article
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q11.2, Specifically Breakpoints 1 to 2.
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- Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 3, p. 355, doi. 10.1002/aur.1378
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- Publication type:
- Article
Increased peripheral blood expression of electron transport chain genes in bipolar depression.
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- Bipolar Disorders, 2010, v. 12, n. 8, p. 813, doi. 10.1111/j.1399-5618.2010.00882.x
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- Publication type:
- Article
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 165, doi. 10.1038/ejhg.2014.82
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- Publication type:
- Article
RAS gene activation in acute myelogenous leukemia: Analysis by in vitro amplification and dna base sequence determination.
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- Genes, Chromosomes & Cancer, 1990, v. 2, n. 1, p. 71, doi. 10.1002/gcc.2870020113
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- Publication type:
- Article
Aquaporin-4 is increased in the sclerotic hippocampus in human temporal lobe epilepsy.
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- Acta Neuropathologica, 2004, v. 108, n. 6, p. 493, doi. 10.1007/s00401-004-0910-7
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- Publication type:
- Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
- Published in:
- Nature, 2012, v. 482, n. 7383, p. 98, doi. 10.1038/nature10814
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- Publication type:
- Article
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
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- Nature Genetics, 2015, v. 47, n. 9, p. 996, doi. 10.1038/ng.3361
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- Publication type:
- Article
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
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- Nature Genetics, 2015, v. 47, n. 5, p. 512, doi. 10.1038/ng.3278
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- Publication type:
- Article
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
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- Nature Genetics, 2013, v. 45, n. 9, p. 1050, doi. 10.1038/ng.2695
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- Publication type:
- Article
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
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- Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
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- Publication type:
- Article
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
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- Nature Genetics, 2011, v. 43, n. 4, p. 321, doi. 10.1038/ng.787
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- Publication type:
- Article
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
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- Nature Genetics, 2008, v. 40, n. 12, p. 1472, doi. 10.1038/ng.240
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- Publication type:
- Article
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1833, doi. 10.1093/ndt/gfab253
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- Publication type:
- Article
Early Life Stress Inhibits Expression of a Novel Innate Immune Pathway in the Developing Hippocampus.
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- Neuropsychopharmacology, 2012, v. 37, n. 2, p. 567, doi. 10.1038/npp.2011.239
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- Publication type:
- Article
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.20125
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- Publication type:
- Article
Genome‐wide association study of cognitive performance in U.S. veterans with schizophrenia or bipolar disorder.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 3, p. 181, doi. 10.1002/ajmg.b.32775
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- Publication type:
- Article
The genetics of functional disability in schizophrenia and bipolar illness: Methods and initial results for VA cooperative study #572.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 4, p. 381, doi. 10.1002/ajmg.b.32242
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- Publication type:
- Article
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. e2513, doi. 10.1210/clinem/dgac076
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- Publication type:
- Article
Microarray results: how accurate are they?
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- BMC Bioinformatics, 2002, v. 3, p. 1
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- Publication type:
- Article
RNA-Seq Profiling of Spinal Cord Motor Neurons from a Presymptomatic SOD1 ALS Mouse.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053575
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- Publication type:
- Article
Gene Network Inference and Biochemical Assessment Delineates GPCR Pathways and CREB Targets in Small Intestinal Neuroendocrine Neoplasia.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022457
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- Publication type:
- Article
Study of the effect of preparation parameters on thermal conductivity of metal oxide nanofluids using Taguchi method.
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- Journal of Energy Systems, 2021, v. 5, n. 2, p. 149, doi. 10.30521/jes.872530
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- Publication type:
- Article
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
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- Human Genetics, 2019, v. 138, n. 10, p. 1105, doi. 10.1007/s00439-019-02042-4
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- Publication type:
- Article
Predicting Neuroendocrine Tumor (Carcinoid) Neoplasia Using Gene Expression Profiling and Supervised Machine Learning.
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- Cancer (0008543X), 2009, v. 115, n. 8, p. 1638, doi. 10.1002/cncr.24180
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- Publication type:
- Article
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
- Published in:
- 2015
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- Publication type:
- journal article
Non-invasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 10, p. E1, doi. 10.1164/rccm.201408-1440oc
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- Publication type:
- Article
Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 10, p. 1116, doi. 10.1164/rccm.201408-1440OC
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- Publication type:
- Article
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
- Published in:
- 2017
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- Publication type:
- journal article
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
- Published in:
- 2017
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- Publication type:
- journal article
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97046-4
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- Publication type:
- Article
The Role of Genetic Markers— NAP1L1, MAGE-D2, and MTA1—in Defining Small-Intestinal Carcinoid Neoplasia.
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- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2006, v. 13, n. 2, p. 253, doi. 10.1245/ASO.2006.12.011
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- Publication type:
- Article
Genome-Wide Association Studies of Schizophrenia and Bipolar Disorder in a Diverse Cohort of US Veterans.
- Published in:
- Schizophrenia Bulletin, 2021, v. 47, n. 2, p. 517, doi. 10.1093/schbul/sbaa133
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- Publication type:
- Article
Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.
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- Human Mutation, 2007, v. 28, n. 12, p. 1236, doi. 10.1002/humu.20592
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- Publication type:
- Article
Whole-Exome Sequencing of Germline Variants in Non- BRCA Families with Hereditary Breast Cancer.
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- Biomedicines, 2022, v. 10, n. 5, p. 1004, doi. 10.3390/biomedicines10051004
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- Publication type:
- Article
KARMA: a web server application for comparing and annotating heterogeneous microarray platforms.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. suppl 2, p. w441, doi. 10.1093/nar/gkh397
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- Publication type:
- Article
Common genetic variants, acting additively, are a major source of risk for autism.
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- Molecular Autism, 2012, v. 3, n. 1, p. 1, doi. 10.1186/2040-2392-3-9
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- Publication type:
- Article
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 4, p. 1149, doi. 10.1038/jid.2013.430
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- Publication type:
- Article
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 827, doi. 10.1038/jid.2012.379
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- Publication type:
- Article
Characterization of the DNA Copy-Number Genome in the Blood of Cutaneous T-Cell Lymphoma Patients.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 1, p. 188, doi. 10.1038/jid.2011.254
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- Publication type:
- Article
Impact of genotyping errors on statistical power of association tests in genomic analyses: A case study.
- Published in:
- Genetic Epidemiology, 2017, v. 41, n. 2, p. 152, doi. 10.1002/gepi.22027
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- Publication type:
- Article
A noncoding variant in <italic>GANAB</italic> explains isolated polycystic liver disease (PCLD) in a large family.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 378, doi. 10.1002/humu.23383
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- Publication type:
- Article
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2112, doi. 10.1002/ajmg.a.61334
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- Publication type:
- Article