Results 71 to 80 of about 7,643,641 (304)

Puzzles in modern biology. IV. Neurodegeneration, localized origin and widespread decay [version 1; referees: 2 approved]

open access: yesF1000Research, 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

Classical Complement Pathway Inhibition in a Pediatric Patient With Refractory Immune Thrombocytopenia

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric refractory immune thrombocytopenia (rITP) is generally characterized by persistent thrombocytopenia and failure to achieve a sustained response to multiple standard therapies. We report a 4‐year‐old female with congenital tufting enteropathy, post‐intestinal transplant patient on immunosuppressants, who developed severe rITP ...
Sarah Hsieh   +4 more
wiley   +1 more source

NEW GENETICS, NEW IDENTITIES

open access: yes, 2007
List of contributors -- Acknowledgements -- 1. Introduction: new genetic identities? / Paul Atkinson and Peter Glasner -- 2. Genetic advocacy groups, science and biovalue: creating political economies of hope / Carlos Novas -- 3.

core  

Valeriy Pavlovich Puzyryov (to the 60th birthday)

open access: yesБюллетень 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

Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices

open access: yesAdvances in Medical Education and Practice, 2015
Michael J Wolyniak,1 Lynne T Bemis,2 Amy J Prunuske2 1Department of Biology, Hampden-Sydney College, Hampden-Sydney, VA, 2Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA Abstract: Genetics is an essential ...
Wolyniak MJ, Bemis LT, Prunuske AJ
doaj  

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data [version 1; referees: 2 approved]

open access: yesWellcome Open Research, 2017
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a ...
Shazia Mahamdallie   +10 more
doaj   +1 more source

Evidence‐Based Clinical Practice Guidelines for the Management of Pediatric Febrile Neutropenia: Resource‐Sensitive Recommendations for the Asian Continent

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Febrile neutropenia (FN) is a frequent and serious complication in children receiving cancer therapy. Standardizing FN management across Asia is challenging due to variable healthcare infrastructure, diagnostic capacity, and infection patterns; however, it could improve resource use and patient outcomes.
Joliza Patricia Cañeba   +29 more
wiley   +1 more source

Medical genetics and epigenetics of telomerase

open access: yes, 2011
Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged ...
Herbert, Brittney-Shea   +9 more
core   +1 more source

The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider. [PDF]

open access: yesDela J Public Health, 2021
Thomas M   +6 more
europepmc   +1 more source

Bone and Soft Tissue Neoplasms in Infants Versus Older Children: A Report From the Cancer in Young People in Canada Program

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Infant bone and soft tissue neoplasms present distinct clinical challenges and lack large‐scale data to inform treatment decisions. This study aims to characterize bone and soft tissue neoplasms in infants in Canada and to compare their outcomes with those of older pediatric patients.
Samuel Sassine   +21 more
wiley   +1 more source

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