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Current conditions in medical genetics practice
Genetics in Medicine, 2019 PurposeThis study of current conditions in medical genetics practice is designed to inform public policy development and present possible solutions for improving access to genetic services.MethodsUsing the American College of Medical Genetics and ...
Deborah R. Maiese +4 more
semanticscholar +1 more source
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study [PDF]
, 2007 BACKGROUND: Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span. METHODS:We conducted a genome wide association study (Affymetrix 100K SNP GeneChip) for longevity-related traits in a ...
Benjamin, Emelia J +11 more
core +6 more sources
Population medical genetics: translating science to the community
Genetics and Molecular Biology, 2019 Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients.
Roberto Giugliani +21 more
doaj +1 more source
The Growth and Development of Genetics at MCV [PDF]
, 1977 Genetics was well established at the Medical College of Virginia by the time I joined the faculty in 1960. At least one course in genetics was required of students in the Schools of Medicine, Dentistry, Pharmacy, and Nursing.
Townsend, J. Ives
core +1 more source
A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]
, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna +6 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Psychological safety (PS) is essential for teamwork, communication, and patient safety in complex healthcare environments. In pediatric oncology, interprofessional collaboration occurs under high emotional and organizational demands. Low PS may increase stress, burnout, and adverse events.
Alexandros Rahn +4 more
wiley +1 more source
F1000Research, 2016 The motor neuron disease amyotrophic lateral sclerosis (ALS) typically begins with localized muscle weakness. Progressive, widespread paralysis often follows over a few years.
Steven A. Frank
doaj +1 more source
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]
, 2017 Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed +97 more
core +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background B‐acute lymphoblastic leukemia (B‐ALL) is the most common pediatric cancer, and while most children in high‐resource settings are cured, therapy carries risks for long‐term toxicities. Understanding parents’ concerns about these late effects is essential to guide anticipatory support and inform evolving therapeutic approaches ...
Kellee N. Parker +7 more
wiley +1 more source
Valeriy Pavlovich Puzyryov (to the 60th birthday)
Бюллетень сибирской медицины, 2007 Creative biography of the famous home scientist, medical doctor, honoured scientist of Russia, academician of RAMS, director of the Institute of Medical Genetics , TSC, SB of RAMS , chief of medical genetics chair of the Siberian State Medical University
Editorial Article
doaj +2 more sources