Results 71 to 80 of about 3,275,705 (300)
The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our ...
P V Novikov
doaj
ABSTRACT Background and Aims Infant bone and soft tissue neoplasms present distinct clinical challenges and lack large‐scale data to inform treatment decisions. This study aims to characterize bone and soft tissue neoplasms in infants in Canada and to compare their outcomes with those of older pediatric patients.
Samuel Sassine +21 more
wiley +1 more source
On the relationship between epistasis and genetic variance heterogeneity
Epistasis and genetic variance heterogeneity are two non-additive genetic inheritance patterns that are often, but not always, related. Here we use theoretical examples and empirical results from earlier analyses of experimental data to illustrate the ...
Forsberg, Simon K. G., +3 more
core +1 more source
Genetic heterogeneity in duodenal ulceration [PDF]
Background: Duodenal ulcer (DU) is a multifactorial disorder with different etiological and pathogenetic mechanisms. Evidence for the role of genetic factors such as familial aggregation, twin studies, ABO blood groups, ABH nonsecretor status and ...
Vidyasagar, A., Venkateshwari, A.
core +1 more source
Dystonic hyperkinesias in children of early childhood
Dystonic hyperkinesias in children of early childhood may beinvolved in the structure of many syndromes that have differentetiological factors, prognosis, and treatment.
M. Yu. Bobylova +7 more
doaj +1 more source
ABSTRACT Background Outcomes in relapsed or refractory pediatric and AYA bone sarcomas remain poor, and the impact of early referral to specialized sarcoma centers on survival is unclear. Early centralization of care may improve local and systemic treatment quality, but evidence in this population is limited.
Justyna Antoniuk‐Majchrzak +9 more
wiley +1 more source
El Tumor de Wilms constituye el más frecuente de los cánceres renales pediátricos, aparece antes de los 5 años de edad y con igual frecuencia en ambos sexos.
Rolando A Hernández Fernández
doaj
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation (NBIA) is aclinically and genetically heterogeneous group of hereditary (predominantlyautosomal recessive) progressive disorders of the CNSwith a common feature of iron accumulation in basal ganglia ...
G. E. Rudenskaya, E. Yu. Zakharova
doaj +1 more source
Genetic heterogeneity in multiple myeloma [PDF]
In the past decade, many progresses have been made in our knowledge of the genetics of multiple myeloma. The use of molecular cytogenetic techniques has led to the identification of several recurrent (cyto)genetic abnormalities, representing either prognostic markers, or novel therapeutic targets.
F, Magrangeas +4 more
openaire +2 more sources
ABSTRACT Introduction Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). Although statins are the cornerstone of lipid‐lowering therapy, their use may be limited in some patients by adverse effects. This study evaluated the possible impact of non‐drug treatment using double‐filtration plasmapheresis (DFPP) on CD14+
Yun Cheng +3 more
wiley +1 more source

