Results 11 to 20 of about 687,024 (308)

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era [PDF]

The Application of Clinical Genetics, 2012
Gregory Costain1,2, Anne S Bassett1–41Clinical Genetics Research Program, Centre for Addiction and Mental Health, 2Institute of Medical Science, University of Toronto, 3Division of Cardiology, Department of Medicine and Department of Psychiatry,
Costain G, Bassett AS
doaj   +1 more source

Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands [PDF]

, 2021
Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare.
Rigter, T., Vrijenhoek, T., Kääriäinen, H., Leitsalu, L., Tonisson, N.   +4 more
core   +1 more source

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

, 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
core   +1 more source

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
doaj   +1 more source

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 more
doaj   +1 more source

THE ROLE OF GENETICS IN MODERN MEDICINE

Байкальский медицинский журнал, 2022
The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk, Igor Zhanovich Seminsky   +1 more
doaj   +1 more source

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +1 more source

Clinical Genetics: A Review [PDF]

Journal of the Royal College of Physicians of London, 1988
Burn, John
openaire   +3 more sources

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 ...
Kate, L.P. ten, Hamamy, H., Arnold Christianson, Ulf Kristoffersson, Lihadh Al-Gazali, Rahman, P., Jean-Jacques Cassiman, Marais, A.D., Kate, L.P., Proton Rahman, Kristoffersson, U., Victor B. Penchaszadeh, Bittles, A., Cornel, M.C., ten Kate, L.P., Kääriäinen, H., Cassiman, J.J., 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   +32 more
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Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency

iScience, 2022
Summary: Premature atrial contractions (PACs) are frequently observed on electrocardiograms and are associated with increased risks of atrial fibrillation (AF), stroke, and mortality.
Sébastien Thériault, Medea Imboden, Mary L. Biggs, Thomas R. Austin, Stefanie Aeschbacher, Emmanuel Schaffner, Jennifer A. Brody, Traci M. Bartz, Martin Risch, Kirsten Grossmann, Henry J. Lin, Elsayed Z. Soliman, Wendy S. Post, Lorenz Risch, Jose E. Krieger, Alexandre C. Pereira, Susan R. Heckbert, Nona Sotoodehnia, Nicole M. Probst-Hensch, David Conen   +19 more
doaj   +1 more source