نتایج جستجو برای: congenital variations
تعداد نتایج: 305990 فیلتر نتایج به سال:
abstract goldberg-shprintzen syndrome (omim 609460) (goshs) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. most affected individuals also have hirschsprung disease and/or gyral abnormalities of the brain. this syndrome has been shown to be associated with kiaa1279 gene mutations at 10q...
A small number of individuals have severe musical problems that have neuro-genetic underpinnings. This musical disorder is termed "congenital amusia," an umbrella term for lifelong musical disabilities that cannot be attributed to deafness, lack of exposure, or brain damage after birth. Amusics seem to lack the ability to detect fine pitch differences in tone sequences. However, differences bet...
background: congenital heart disease (chd) is the most common congenital anomaly in newborns. this study was performed to determine the live birth incidence of chd by ethnicity and sex in gorgan, northern iran. methods: in this longitudinal, hospital-based study, 18162 live births in dezyani hospital in gorgan, north of iran, were screened for chd, from 2007 through 2009. clinical examination, ...
STUDY DESIGN A paleopathological case of posterior arch defect of the atlas associated to the absence of costal element of the foramen transversarium. OBJECTIVE In living patients as well as in postmortem analysis it should be difficult to distinguish between a congenital and an acquired anomaly. Any anomaly in the anatomy of atlas should be taken into consideration by clinicians, surgeons, r...
Leber congenital amaurosis (LCA) is a severe autosomal-recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1, located in the LCA9 locus. Although most mutations in blindness genes are coding variations, there is accumulating evidence for hidden noncoding defects or structural variations (SVs). The starting point of this study was an LCA9-associate...
introduction congenital microgastria is an extremely rare anomaly, which is due to failure of gastric development, and causes a tubular stomach with reduced capacity. it is almost always associated with other congenital anomalies. case presentation the patient was a two-month-old boy with microgastria in association with gastroesophageal reflux, tracheomalacia, and limb defect. discussion most ...
background: brain type natriuretic peptide (bnp) is a cardiac hormone that is secreted mainly by the ventricles in response to volume expansion and pressure load. it can predict post-operative complications after heart surgery in adults. we sought to investigate the prognostic value of bnp in children after heart surgery. methods: we measured the bnp serum levels in 96 children with congenital ...
in current study, 63 samples of bat populations collected from differ regions were used for evaluating the geographic variations. twenty cranial and dental characters for traditional morphometric and landmarks method on the ventral, dorsal skull and mandible for geometry morphometric studies were used. statistical analyses of traditional morphometric and geometry morphometric data indicated low...
INTRODUCTION: The term ectopic kidney is used to describe a that found in place not its normal anatomic position while malrotation refers the abnormal orientation of kidney. These two are some congenital malformations predisposed embryogenesis.CASE: current findings were discovered during routine dissections Gross lab Human Anatomy Department University RwandaA left with relatively larger than ...
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