Results 21 to 30 of about 1,218,074 (212)
Some pioneers of European human genetics [PDF]
, 2017 Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author. These interviews, and the memories of earlier workers in the field recalled by interviewees, provide a vivid picture ...
A Hogben +27 more
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Immune-mediated genesis of multiple sclerosis
Journal of Translational Autoimmunity, 2020 Multiple sclerosis (MS) is widely acknowledged to be an autoimmune disease affecting the neuronal myelin structure of the CNS. Autoantigens recognized as the target of this autoimmune process are: myelin basal protein, anti-proteolipid protein ...
Salvatore Cavallo, MD, Specialist in Medical Genetics
doaj
F1000Research, 2017 With this report we aim to make available a standard operating procedure (SOP) developed for RNA stabilization of small blood volumes collected via a finger stick.
Darawan Rinchai +3 more
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F1000Research, 2017 Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss.
Erika Banuelos +18 more
doaj +1 more source
On the road to personalised and precision geomedicine: medical geology and a renewed call for interdisciplinarity [PDF]
, 2016 Our health depends on where we currently live, as well as on where we have lived in the past and for how long in each place. An individual’s place history is particularly relevant in conditions with long latency between exposures and clinical ...
Kamel Boulos, MN, Le Blond, JS
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Management of biobanking for medical genetics research
Кардиоваскулярная терапия и профилактика, 2022 Biobanking is one of the most important elements of the modern infrastructure for biomedical research. Organization of a biobank on the basis of the N. P.
V. Yu. Tabakov
doaj +1 more source
COUNSELING IN MEDICAL GENETICS
The Journal of Nervous and Mental Disease, 1955 Mode of access: Internet.
openaire +5 more sources
Webcast courses in Medical Genetics and next generation sequencing [PDF]
, 2013 The European School of Genetic Medicine organised the 26th Course in Medical Genetics and the 2nd Course in Next Generation Sequencing, between the 12th and 20th May 2013.
Borg, Isabella
core
, 2004 Dermatology continues to develop at a steady pace. In the past few years there have been exciting advances in our understanding of skin structure and function in health and disease and progress in genetics, epidemiology, immunology, pharmacology and ...
Boffa, Michael J.
core +1 more source
A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. [PDF]
, 2005 Blood. 2005 Oct 15;106(8):2922-3. A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.
Almeida, S. +8 more
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