Results 291 to 300 of about 1,294,431 (344)

Proximally biased V(D)J recombination in the clonal evolution of IGH alleles in KMT2A::AFF1 BCP‐ALL of all age classes

open access: yesHemaSphere
Heiko Müller   +12 more
doaj   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan   +4 more
wiley   +1 more source

NRF2 maintains redox balance via ME1 and NRF2 inhibitor synergizes with venetoclax in NPM1-mutated acute myeloid leukemia. [PDF]

open access: yesCancer Metab
Hu J   +14 more
europepmc   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera   +12 more
wiley   +1 more source

Machine learning driven dashboard for chronic myeloid leukemia prediction using protein sequences. [PDF]

open access: yesPLoS One
Ahmad W   +5 more
europepmc   +1 more source

Splenic Infarction at the Crossroads of Hematologic and Cardioembolic Risk. [PDF]

open access: yesCureus
Annan GK   +4 more
europepmc   +1 more source

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