Results 111 to 120 of about 271,398 (310)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
Active search for occupational diseases in agriculture : our experience
, 2012 Introduction Due to the prevalence of family based and self-employed workers ‘run enterprises, remoteness, and distance from health care structures, rural workers are very often not provided with occupational health care at the workplace and usually ...
S. Mandic-Rajcevic +6 more
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National Institute for Occupational Safety and Health projects for FY 1988
"Project plans for fiscal year 1988 under the direction of the National Institute for Occupational Safety and Health (NIOSH) were presented along with the planning format used, organizational chart, and mission statements from the various divisions of ...
core +1 more source
环境与职业医学During the career life cycle, workers may face various health problems such as occupational injuries, occupational diseases, and work-related diseases.
Xiaojun ZHU, Yishuo GU, Jingguang FAN
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Терапевтический архив, 2010 Aim: to assess a relationship between obstructive sleep apnea syndrome (OSAS) and the signs of non-alcoholic fatty liver disease (NAFLD) in patients with metabolic syndrome (MS). Material and methods.
M M Severova +7 more
doaj
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
, 1997 Medical screening of workers is one of the tools often used to assess suitability for work and to attempt to reduce worker ill-health. This article outlines the objectives of the screening process and the basic criteria to be followed in developing a ...
Gauci, Mark, Vella, Noel
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