Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...
Patients with clinical features suggestive of either NS, NSML, CFC, NF1, Legius syndrome or Noonan-like syndrome; patients with a clinical diagnosis of any of these syndromes that previously tested ...
In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...
The banding pattern technique with densitometric evaluation revealed duplication of the short arm of chromosome No. 7 associated with pericentric inversion of chromosome No. 2 in a case where, prior ...
BloodCenter of Wisconsin’s Diagnostic Laboratories earlier this week announced the availability of genetic deletion/duplication analysis. Using array Comparative Genomic Hybridization (aCGH), the test ...
Please provide your email address to receive an email when new articles are posted on . The mean effect of 16p11.2 duplication on cognition was similar to that of reciprocal deletion; however, ...
Discover the rise of H2D haplotype frequencies in European populations and their implications for genetic diversity and disease susceptibility. In conclusion, we propose that the ancestral H2′ ...
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