Found: 15
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Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
- Published in:
- 2017
- By:
- Publication type:
- journal article
SARS‐CoV‐2 RNA screening in routine pathology specimens.
- Published in:
- Microbial Biotechnology, 2021, v. 14, n. 4, p. 1627, doi. 10.1111/1751-7915.13828
- By:
- Publication type:
- Article
Author Correction: Regression-based Deep-Learning predicts molecular biomarkers from pathology slides.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Regression-based Deep-Learning predicts molecular biomarkers from pathology slides.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45589-1
- By:
- Publication type:
- Article
Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123476
- By:
- Publication type:
- Article
ITIH5 as a multifaceted player in pancreatic cancer suppression, impairing tyrosine kinase signaling, cell adhesion and migration.
- Published in:
- Molecular Oncology, 2024, v. 18, n. 6, p. 1486, doi. 10.1002/1878-0261.13609
- By:
- Publication type:
- Article
Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230003
- By:
- Publication type:
- Article
RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 4, p. 791, doi. 10.1038/sj.jid.5701088
- By:
- Publication type:
- Article
HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 6, p. 1065, doi. 10.1007/s00467-018-4188-8
- By:
- Publication type:
- Article
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 45, doi. 10.1002/humu.20614
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- Publication type:
- Article
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9496
- By:
- Publication type:
- Article
Regression-based Deep-Learning predicts molecular biomarkers from pathology slides.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45589-1
- By:
- Publication type:
- Article
Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy.
- Published in:
- Cellular Oncology (2211-3428), 2020, v. 43, n. 5, p. 807, doi. 10.1007/s13402-020-00524-6
- By:
- Publication type:
- Article
Molecular Characterization of Muellerian Tumors of the Urinary Tract.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 880, doi. 10.3390/genes12060880
- By:
- Publication type:
- Article
SWI/SNF Alterations in Squamous Bladder Cancers.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1368, doi. 10.3390/genes11111368
- By:
- Publication type:
- Article