Results 21 to 30 of about 4,898,577 (190)

Medical genetics of ciliopathies

Journal of Pediatric Genetics, 2015
Neither of us had heard about the existence of cilia during biology or genetics courses in high school or university. Nonetheless, these evolutionarily conserved, antenna-shaped organelles of the cell appear to be essential for human development and proper functioning of our organs.
Mans, D.A., Arts, H.H.
openaire   +5 more sources

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  

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

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, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen   +18 more
doaj   +1 more source

Finger stick blood collection for gene expression profiling and storage of tempus blood RNA tubes [version 2; referees: 1 approved, 2 approved with reservations]

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, Esperanza Anguiano, Phuong Nguyen, Damien Chaussabel   +3 more
doaj   +1 more source

Assessing Medical Students’ Knowledge of Genetics: Basis for Improving Genetics Curriculum for Future Clinical Practice

Advances in Medical Education and Practice, 2021
Purpose The knowledge of genetics among medical students was assessed to identify and analyze gaps that serve as bases for the revision of the current genetics curriculum of the (Bachelor of Medicine, Bachelor of Surgery) MBBS Program of the College of ...
Amal A Alotaibi, M. A. Cordero
semanticscholar   +1 more source

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

A new strategy of teaching medical genetics in the era of precision medicine [PDF]

Jichu yixue yu linchuang, 2020
“Harvard Medical School-Peking Union Medical College training to teachers program(T2T training program)” covers topics in andragogical advances of medical education.
LIU Ya-ping, ZHANG Xue
doaj  

Rapid and inexpensive body fluid identification by RNA profiling-based multiplex High Resolution Melt (HRM) analysis [v2; ref status: indexed, http://f1000r.es/314]

F1000Research, 2014
Positive identification of the nature of biological material present on evidentiary items can be crucial for understanding the circumstances surrounding a crime.
Erin K. Hanson, Jack Ballantyne
doaj   +1 more source

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

JMIR Medical Informatics, 2021
BackgroundParticipation in quality controls, also called external quality assessment (EQA) schemes, is required for the ISO15189 accreditation of the Medical Centers of Human Genetics.
Joséphine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valérie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, Lut Van Laer, Wim Wuyts, Anniek Corveleyn, Kris Van Den Bogaert, Catherine Rydlewski, Françoise Wilkin, Marie Ravoet, Elodie Fastré, Arnaud Capron, Nathalie Monique Vandevelde   +19 more
doaj   +1 more source