Gene duplication events in European eels have restored cell membrane permeability for urea and boric acid through mutated aquaporin genes. “The aromatic/arginine (ar/R) selectivity filter is a narrow ...
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 ...
This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...
Survival and outcome data observed in 98 patients affected by acute myeloid leukemia undergoing chemotherapy consolidation courses treatment followed by autologous bone marrow transplantation ...
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 ...
This APP duplication was identified in a cohort of Japanese patients with familial and early onset sporadic Alzheimer’s disease (AD) (Kasuga et al., 2009). Duplications were detected using ...
This APP duplication was identified in a cohort of Japanese patients with familial and early onset sporadic Alzheimer’s disease (AD) (Kasuga et al., 2009). Duplications were detected using ...
Bottom line: A new mutation was identified in 9 percent of relapsed cases of pediatric acute myeloid leukemia (AML) that may define a new subtype of the disease. While the researchers identified the ...
Results that may be inaccessible to you are currently showing.
Hide inaccessible results
Feedback