Search Results - "Clarke, Virginia"
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Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis
Published in Therapeutic Advances in Gastroenterology (01-07-2016)“…Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal…”
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Book Review Journal Article -
2
Automated High Resolution Optical Mapping Using Arrayed, Fluid-Fixed DNA Molecules
Published in Proceedings of the National Academy of Sciences - PNAS (07-07-1998)“…New mapping approaches construct ordered restriction maps from fluorescence microscope images of individual, endonuclease-digested DNA molecules. In optical…”
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3
Ocular manifestations of Fabry disease within in a single kindred
Published in Optometry (Saint Louis, Mo.) (01-09-2010)“…Fabry disease is an X-linked lysosomal storage disorder that causes progressive complications within the kidneys, brain, and heart. Ocular manifestations of…”
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4
A Large-Scale, Collaborative Care Summit to Promote Interprofessional Learning: Ischemic Stroke
Published in MedEdPORTAL (10-01-2013)“…Abstract Introduction This resource, developed by the Northeastern/Central Pennsylvania Interprofessional Education Coalition (NECPA-IPEC), was created to meet…”
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5
Safety and outcomes of eculizumab for acetylcholine receptor‐positive generalized myasthenia gravis in clinical practice
Published in Muscle & nerve (01-09-2022)“…Introduction/Aims Safety and outcomes data on eculizumab for generalized myasthenia gravis (gMG) in clinical practice remain limited. Outcomes and concomitant…”
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Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments
Published in JIMD Reports, Volume 18 (01-01-2015)“…We examined the feasibility of recruiting US adults ≥45 years old with Fabry disease (FD) for telephone assessments of cognitive functioning. A case–control…”
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7
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies
Published in PLoS genetics (01-01-2013)“…The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma…”
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Factors influencing patient preferences for oral versus intravenous (IV) enzyme replacement medication
Published in Molecular genetics and metabolism (01-02-2018)Get full text
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9
Determinants of white matter hyperintensity burden in patients with Fabry disease
Published in Neurology (17-05-2016)“…OBJECTIVE:Using a semiautomated volumetric MRI assessment method, we aimed to identify determinants of white matter hyperintensity (WMH) burden in patients…”
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10
Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors
Published in Journal of genetic counseling (01-10-2013)“…Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test…”
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11
Comparison of clinical practice guidelines and actual clinical practice in Fabry disease diagnosis
Published in Molecular genetics and metabolism (01-02-2015)Get full text
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12
A new pain assessment tool for Fabry disease
Published in Molecular genetics and metabolism (01-02-2011)Get full text
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13
Readers offer insight on food animal veterinarian shortage
Published in Journal of the American Veterinary Medical Association (15-12-2006)Get full text
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14
Gerotranscendence and perceptions of health and aging in older adults participating in a senior companion program
Published 01-01-2008“…This correlational, nonexperimental study examined the relationships among gerotranscendence, gender, age, status as a senior companion volunteer or agency…”
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Dissertation -
15
The Impact of Fabry Disease on Reproductive Fitness
Published in JIMD Reports, Volume 37 (01-01-2017)“…Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and…”
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16
A shotgun optical map of the entire Plasmodium falciparum genome
Published in Nature genetics (01-11-1999)“…The unicellular parasite Plasmodium falciparum is the cause of human malaria, resulting in 1.7-2.5 million deaths each year. To develop new means to treat or…”
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17
SRY gene expression in the ovotestes of XX true hermaphrodites
Published in The Journal of urology (01-04-2002)“…The pathogenesis of 46 XX true hermaphroditism is uncertain and the role of the SRY gene in ovotestis development has not been thoroughly evaluated. We…”
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Association of germ-line single nucleotide polymorphisms (SNPs) with pathologic response to neoadjuvant cisplatin-based chemotherapy in patients with resectable non-small cell lung cancers
Published in Journal of clinical oncology (20-05-2013)“…Abstract only 7558 Background: Pathologic response to neoadjuvant chemotherapy correlates with survival in resected lung cancers. Predictive biomarkers of…”
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19
Separate domains of the Ran GTPase interact with different factors to regulate nuclear protein import and RNA processing
Published in Molecular and Cellular Biology (01-04-1995)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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The Sendai Framework for Disaster Risk Reduction and Its Indicators——Where Does Health Fit in?
Published in International journal of disaster risk science (01-06-2017)“…The Sendai Framework for Disaster Risk Reduction 2015–2030 recognizes the strong connection between health and disasters and promotes the concept of health…”
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Journal Article