نتایج جستجو برای: spondyloepiphyseal dysplasia
تعداد نتایج: 28617 فیلتر نتایج به سال:
The purpose of this study was to investigate the effect of combining Real Experimentation (RE) With Virtual Experimentation (VE) on students’ conceptual understanding of photo electric effect. To achieve this, a pre–post comparison study design was used that involved 46 undergraduate students. Two groups were set up for this study. Participants in the control group used RE to learn photo electr...
Background: Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare, autosomal recessive, pleiotropic disease caused by mutations in the SMARCAL1 gene. SIOD characterized triad of symptoms, i.e., progressive kidney due to focal segmen- tal glomerulosclerosis (FSGS), spondyloepiphyseal and T-cell immunodeficiency. Additionally, heterogeneous neurological symptoms are often observed course...
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-...
Clinical ethic situations in modern multiprofessional healthcare systems may involve different healthcare professions who work together for patient care. The undergraduate interprofessional education of clinical ethics would help to incubate healthcare students' ability of interprofessional collaboration in solving ethical problems. However, the impact from an interprofessional educational mode...
In this study, we hypothesized that dynamics of sleep time obtained over consecutive days of extended sleep in a laboratory reflect an individual's optimal sleep duration (OSD) and that the difference between OSD and habitual sleep duration (HSD) at home represents potential sleep debt (PSD). We found that OSD varies among individuals and PSD showed stronger correlation with subjective/objectiv...
Congenital knee dislocation is a rare anomaly associated with a variety of neuromuscular diseases and deformities. The etiology of this condition remains unclear, but it is usually associated with a variety of disorders, such as Larsen's syndrome, arthrogryposis, spondyloepiphyseal dysplasia, Ehlers-Danlos syndrome, Down syndrome, and Streeter's dysplasia. It is rarely an isolated entity, and 6...
A 17-year-old girl (height: 16 cm below the third percentile; weight 10 kg below the third percentile) was diagnosed with familial steroid-resistant nephrotic syndrome at the age of 6 years. A renal biopsy was performed at this time, which showed that all 16 glomeruli were normal by light microscopy. Neither steroid therapy, cyclosporine A nor ACE inhibitor therapy led to remission. The patient...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید