Results 11 to 20 of about 7,643,641 (304)

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   +2 more sources

Population medical genetics: translating science to the community [PDF]

Genetics and Molecular Biology, 2019
Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients.
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski   +21 more
doaj   +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
doaj   +1 more source

Application of active learning modalities to achieve medical genetics competencies and their learning outcome assessments [PDF]

Advances in Medical Education and Practice, 2017
Nobuko Hagiwara Division of Cardiovascular Medicine, Department of Internal Medicine, School of Medicine, University of California, Davis, CA, USA Abstract: The steadily falling costs of genome sequencing, coupled with the growing number of genetic tests
Hagiwara N
doaj   +2 more sources

MLPA analysis - application in the diagnostic activity of the medical geneticist [PDF]

, 2020
The article is mainly focused on physicians (hospital clinicians, family doctors) without specific experience in medical genetics, whose patients present with a probable genetic condition.
Stoyanova, Milena; Medical University of Varna, Hachmeriyan, Mari; Medical University of Varna, Chervenkov, Trifon; Medical University of Varna, Iotova, Violeta; Medical University of Varna, Georgieva, Miglena; Medical University of Varna, Angelova, Lyudmila; Medical University of Varna, Levkova, Maria; Medical University of Varna, Trifon Chervenkov, Lyudmila Angelova, Maria Levkova, Mari Hachmeriyan, Miglena Georgieva, Violeta Iotova, Milena Stoyanova   +13 more
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Clinical genetics in Britain: origins and development [PDF]

, 2010
Clinical genetics has become a major medical specialty in Britain since its beginnings with Lionel Penrose’s work on mental handicap and phenylketonuria (PKU) and John Fraser Robert’s first genetic clinic in 1946.
Harper, PS, Reynolds, LA, Tansey, EM
core   +4 more sources

The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022

, 2023
The European Society of Human Genetics-Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries.
Avram, Elena, da Silva, Ana Raquel Gouveia Freitas, Tonini, Francesca, Committee, European Society of Human Genetics-Young, Săbău, Ileana Delia, Kalantari, Silvia, Cerqueira, Juliana Xavier de Miranda, de Miranda Cerqueira, Juliana Xavier, Dore, Rhys, Ding, Can, Noor, Nuru, Mroczek, Magdalena, -, -, Johari, Mridul, Sabau, Ileana-Delia, Barbosa-Matos, Rita   +15 more
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Community genetics. Its definition 2010 [PDF]

, 2010
This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the ...
Hamamy, H., Arnold Christianson, Ulf Kristoffersson, Lihadh Al-Gazali, Rahman, P., Jean-Jacques Cassiman, Kate, L.P., Proton Rahman, Kristoffersson, U., Victor B. Penchaszadeh, Bittles, A., Cornel, M.C., Kääriäinen, H., Christianson, A., Hanan Hamamy, Al-Gazali, L., Schmidtke, J., David Marais, Leo P. ten Kate, Jörg Schmidtke, Helena Kääriäinen, Martina C. Cornel, Anand, S., Penchaszadeh, V.B., Alan Bittles, Sonia Anand, Marais, D., Cassiman, J-J, Leo P. ten Kate, Kääriäinen, Helena, Marais, David, Penchaszadeh, Victor B., Al-Gazali, Lihadh, Cornel, Martina C., Bittles, Alan, Cassiman, Jean-Jacques, Christianson, Arnold, Schmidtke, Jörg, Rahman, Proton, Anand, Sonia, Hamamy, Hanan, ten Kate, Leo P., Kristoffersson, Ulf   +42 more
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The impact of needs-based education on the change of knowledge and attitudes towards medical genetics in medical students

, 2021
In this research we aimed to (1) develop and validate a new questionnaire examining attitudes and knowledge towards medical genetics, (2) examine the knowledge and attitudes towards medical genetics in students of the Medical Faculty in Rijeka, Croatia ...
Ostojić, Saša, Pereza, Nina, Mavrinac, Martina, Čargonja, Paola, Martina Mavrinac, Nina Pereza, Paola Čargonja, Saša Ostojić   +7 more
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Glossary of medical and molecular genetics [PDF]

, 2005
Educational Items on Glossary of medical and molecular ...
Dallaire, L
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