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UnknownThe clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Not available
S-EPMC6651926 | biostudies-literature
UnknownChromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.
Not available
S-EPMC5774134 | biostudies-literature
UnknownNovel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
Not available
S-EPMC6579994 | biostudies-literature
UnknownA unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.
Not available
S-EPMC10119849 | biostudies-literature
UnknownCase Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.
Not available
S-EPMC8585740 | biostudies-literature
UnknownCirculating Serum MicroRNA-130a as a Novel Putative Marker of Extramedullary Myeloma.
Not available
S-EPMC4577078 | biostudies-literature
UnknownThe spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma.
Not available
S-EPMC5685224 | biostudies-literature
UnknownExome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Not available
S-EPMC10845791 | biostudies-literature
TranscriptomicsCervical Carcionoma Agilent CGH+SNP 4x180k
In this study, we evaluation of incidence of copy number abnormalities (CNAs) with high-desity CGH+SNP microarrays in cohort 26 patients with cervical tumors. Incidence of CNAs was copmared with clinical prognostic factors.
ORGANISM(S): Homo sapiens 
2014-04-01 | E-MTAB-2293 | biostudies-arrayexpress
UnknownCirculating exosomal long noncoding RNA PRINS-First findings in monoclonal gammopathies.
Not available
S-EPMC6585732 | biostudies-literature
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