Results 221 to 230 of about 84,691 (282)
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Editorial: Evaluating differentiation therapy and biomarkers in myeloid malignancies. [PDF]
Noguera NI, Hasan SK, Cicconi L.
europepmc +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Rare Gain-of-Function Variants in IDH1 and IDH2 Confer Increased Risk of Immune-Mediated Rheumatic Diseases. [PDF]
Kaymakci MS +3 more
europepmc +1 more source
Striking Bone Marrow Plasmacytosis Resulting From Visceral Leishmaniasis
American Journal of Hematology, EarlyView.
Vishakha Sovani +2 more
wiley +1 more source
Outstanding Questions to Understand and Target Splicing Factor-Mutant Blood Cancers. [PDF]
Maron MI, Abdel-Wahab O.
europepmc +1 more source
[Hematological changes in children with neoplasms].
M, Ochocka +2 more
openaire +1 more source
When Blasts Speak Louder Than Flow: A Diagnostic Challenge in Suspected Hematologic Malignancy. [PDF]
Izadian Bidgoli A +3 more
europepmc +1 more source

