Results 131 to 140 of about 328,577 (288)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid +16 more
wiley +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Regional and Racial Variation in Health Care Among Medicare Beneficiaries [PDF]
, 2008 Focuses on variations in healthcare delivery and outcomes among and within hospital service areas, in addition to racial and geographic disparities, as measured by five indicators.
Amitabh Chandra +2 more
core
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe +19 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones +6 more
wiley +1 more source
Measuring nurse workload in ambulatory care [PDF]
, 2005 Nurses and adequate nurse staffing are critical to the delivery of safe, cost-effective, and quality patient care in every health care setting. This has been proven time and again through various research studies and recognized by various accrediting ...
Griffin, Karen F. , MSN, RN, CNAA +1 more
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
The management specialist in effective pediatric ambulatory care.
, 1969 Douglas Fink +4 more
openalex +1 more source
Neuroleukemiosis Masquerading as Drug Toxicity in an Adolescent With Refractory AML
American Journal of Hematology, EarlyView.
Nia Choi +11 more
wiley +1 more source
Hub and Spokes in Intellectual Disability Mental Health Support
Australian Journal of Social Issues, EarlyView.ABSTRACT The distribution of specialist health services is usually uneven by location due to limited resources, which is a problem for people with complex needs. In this context, how can a hub and spoke model offer appropriate services for people with intellectual disability and mental health needs?
Christiane Purcal +4 more
wiley +1 more source