Results 21 to 30 of about 687,041 (305)

Genetics in Clinical Trials [PDF]

, 2009
Clinical trials provide the ‘evidence’ in evidence-based medicine. Despite their cost and complexity, clinical trials save society billions of dollars [1]. Recent advances have enabled genome-wide analyses of single nucleotide polymorphisms in complex diseases. Such analyses require large sample sizes and thus depend on collaborative efforts.
James F, Meschia, Katrina, Gwinn
openaire   +2 more sources

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy [PDF]

, 2018
BACKGROUND: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. OBJECTIVES: This study investigated the correlations
van Spaendonck-Zwarts, KY, Dalinghaus, M, Hofstra, RMW, Backx, A, van Melle, JP, IJpma, Arne, Teske, AJ, Sarvaas, GJD, van den Berg, MP, Caliskan, Kadir; id_orcid, Caliskan, Kadir, Kardys, Isabella, Baas, AF, Asselbergs, FW, du Marchie Sarvaas, GJ, Breur, JMPJ, Linschoten, MPM, Breur, J, Boekholdt, SM, Dooijes, D, Waning, Jaap, Hofstra, Robert, Backx, APCM, Spaendonck-Zwarts, KY, Majoor-Krakauer, D, Caliskan, K, IJpma, AS, Jongbloed, JDH, Hoedemaekers, YM, Dalinghaus, M., Kardys, I, van Slegtenhorst, Marjon, van Slegtenhorst, MA, Deprez, RHL, Majoor - Krakauer, Danielle, Verlooij, LA, van Waning, JI   +36 more
core   +1 more source

Genetics in clinical practice: general practitioners' educational priorities in European countries [PDF]

, 2008
PURPOSE: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics.
Schmidtke, Joerg, Kate, L. ten, Ulf Kristoffersson, Harris, H.J., Plass, A.M., Anne-Marie Plass, Kirsty Challen, Julian-Reynier, Claire, Calefato, Jean-Marc, Ten Kate, Leo, Kristoffersson, U., Harris, Rodney, ten Kate, L.P., Plass, Anne-Marie, Benjamin, Caroline, Anionwu, E., Calefato, J.M., Irma Nippert, Caroline Benjamin, Leo Ten Kate, Schmidtke, J., Challen, K., Anionwu, Elizabeth, Claire Julian-Reynier, Harris, R, Julian-Reynier, C., Joerg Schmidtke, Rodney Harris, Harris, R., Plass, A.M.C., Benjamin, C.M., Jean-Marc Calefato, Nippert, Irma, Nippert, I., Challen, Kirsty, Hilary Harris, Benjamin, C., Harris, Hilary, Kristoffersson, Ulf, Lund University., Elizabeth Anionwu, Kristoffersson, Ulf,   +41 more
core   +1 more source

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   +2 more sources

Clinical Genetics In Developing Countries: The Case Of Brazil. [PDF]

, 2015
There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public ...
Brunoni, Décio, Acosta, Angelina Xavier, Ferraz, Victor E Faria, Marques-de-Faria, Antonia Paula   +3 more
core   +3 more sources

Association of pulse wave velocity with single nucleotide polymorphisms related to parathyroid hormone

Blood Pressure, 2018
Objective: Carotid-femoral pulse wave velocity (cfPWV) was associated with serum parathyroid hormone (PTH) in untreated Chinese. We investigated in the same cohort whether cfPWV, brachial-ankle (baPWV) and heart-brachial (hbPWV) pulse wave velocity (PWV)
Yi-Bang Cheng, Qian-Hui Guo, Dong-Yan Zhang, Ying Wang, Qi-Fang Huang, Chang-Sheng Sheng, Ji-Guang Wang, Jan A. Staessen, Yan Li   +8 more
doaj   +1 more source

The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases

罕见病研究, 2023
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang, XU Kexin, WU Zhihong, ZHANG Jianguo, QIU Guixing, WU Nan   +5 more
doaj   +1 more source

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics, 2019
Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is
Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Ben Pode-Shakked, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Miriam Regev, Annick Raas-Rothschild, Annick Raas-Rothschild, Elon Pras, Elon Pras, Michal Berkenstadt, Michal Berkenstadt   +22 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

Development of clinical genetics in Asia [PDF]

, 2019
This Special Issue on Clinical Genetics in Asia highlights a collection of articles showing the growth, development, and current status of clinical genetics in Asia.
Lai, PS, Willis, B, Brian Chung, Poh‐San Lai, Chung, B, Brooke Willis   +5 more
core   +1 more source