Results 1 to 10 of about 6,449,510 (208)

Long-Read Sequencing Emerging in Medical Genetics [PDF]

Frontiers in Genetics, 2019
The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural ...
Tuomo Mantere, Tuomo Mantere, Simone Kersten, Simone Kersten, Simone Kersten, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen   +7 more
doaj   +3 more sources

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

Advances in Medical Education and Practice, 2021
Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
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Exploration of strengthening the cultivation of ethical quality in the construction of medical genetics course [PDF]

Jichu yixue yu linchuang, 2020
With the completion of the human genome project and the advancement of sequencing technology, the ethical issues involved in medical genetics have become increasingly prominent. This requires the integration of ethical and other ideological elements into
MI Ya-jing, ZHANG Ni, FENG Hao, LIU Jie, GOU Xing-chun, JING Xiao-hong
doaj  

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

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
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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

Genetics in medical practice [PDF]

Genetics in Medicine, 2002
Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for ...
openaire   +2 more sources

COUNSELING IN MEDICAL GENETICS

The Journal of Nervous and Mental Disease, 1955
Mode of access: Internet.
openaire   +2 more sources

Medical Genetics in Peru

Public Health Genomics, 2004
Peru has a growing population characterized by notorious socioeconomic differences. The main health problems are acquired diseases related to sanitary conditions that affect mainly the large segment afflicted by poverty and extreme poverty. The state’s health policy does not contemplate any action on congenital or genetic conditions, and genetic ...
openaire   +2 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
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