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361por Kulathinal, Rob J.“…In this commentary, Rob Kulathinal describes two papers from the Perrimon laboratory, each describing a new online resource that can assist geneticists with the design of their RNAi experiments. …”
Publicado 2013
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362por Kulathinal, Rob J.“…In this commentary, Rob Kulathinal describes two articles from the Perrimon lab, each describing a new online resource that can assist geneticists with the design of their RNA interference (RNAi) experiments. …”
Publicado 2013
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363“…We set the scientific context necessary for non-geneticists to understand the potential clinical applications of human genetics and its significance for a stratified approach to the management of RA in the future.…”
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364“…With this Special Issue of Genes we acknowledge and appreciate this rather recent development by not only introducing the field of forensics to the wider community of geneticists, but we do so by emphasizing on different topics of forensic relevance where genomic, transcriptomic, and epigenomic principles, methods, and datasets of humans and beyond are beginning to be used to answer forensic questions.…”
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365“…It is important for neurologists, geneticists, psychiatrists, dentists, and other appropriate care specialists to have a thorough knowledge of this syndrome as any of them could be the first person to diagnose the disease. …”
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366“…While this has significantly benefited clinicians in their care of patients and families, it has also altered how geneticists evaluate patients. One immediate example is the role of the dysmorphologic physical exam in the patient evaluation. …”
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367por Muenke, Maximilian“…Mentors without Borders is a proposed international mentoring network that allows trainee geneticists to identify mentors from a list of volunteers who are not at one's own institution. …”
Publicado 2016
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368“…CONCLUSION: The SDH mutation database offers a valuable tool and resource for clinicians involved in the treatment of patients with paraganglioma-pheochromocytoma, clinical geneticists needing an overview of current knowledge, and geneticists and other researchers needing a solid foundation for further exploration of both these tumor syndromes and SDHA-related phenotypes.…”
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369por Furniss, D, Kan, S-h, Taylor, I B, Johnson, D, Critchley, P S, Giele, H P, Wilkie, A O M“…BACKGROUND: Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. The authors aimed to characterise causative mutations in an unselected cohort of patients with CLMs requiring reconstructive surgery. …”
Publicado 2009
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370por Pandey, Ram Vinay, Kofler, Robert, Orozco-terWengel, Pablo, Nolte, Viola, Schlötterer, Christian“…Only since recently, functional geneticists are starting to account for natural variation in their analyses. …”
Publicado 2011
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371por Gross, Oliver, Kashtan, Clifford E., Rheault, Michelle N., Flinter, Frances, Savige, Judith, Miner, Jeffrey H., Torra, Roser, Ars, Elisabet, Deltas, Constantinos, Savva, Isavella, Perin, Laura, Renieri, Alessandra, Ariani, Francesca, Mari, Francesca, Baigent, Colin, Judge, Parminder, Knebelman, Bertrand, Heidet, Laurence, Lagas, Sharon, Blatt, Dave, Ding, Jie, Zhang, Yanqin, Gale, Daniel P., Prunotto, Marco, Xue, Yong, Schachter, Asher D., Morton, Lori C.G., Blem, Jacqui, Huang, Michael, Liu, Shiguang, Vallee, Sebastien, Renault, Daniel, Schifter, Julia, Skelding, Jules, Gear, Susie, Friede, Tim, Turner, A. Neil, Lennon, Rachel“…In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. …”
Publicado 2017
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372“…A population study involving epidemiologists, geneticists, toxicologists, statisticians, and physicians is proposed to determine the disease relevance of these biomarkers.…”
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373“…Discussions amongst pathologists, clinicians, and molecular geneticists around these diseases focussed on incorporating new knowledge into the next classification system. …”
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374por Nielsen, Rasmus“…The large single nucleotide polymorphism (SNP) typing projects have provided an invaluable data resource for human population geneticists. Almost all of the available SNP loci, however, have been identified through a SNP discovery protocol that will influence the allelic distributions in the sampled loci. …”
Publicado 2004
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375por Abrahams, Brett S, Arking, Dan E, Campbell, Daniel B, Mefford, Heather C, Morrow, Eric M, Weiss, Lauren A, Menashe, Idan, Wadkins, Tim, Banerjee-Basu, Sharmila, Packer, Alan“…Although encouraging, the volume and complexity of these data make it challenging for scientists, particularly non-geneticists, to comprehensively evaluate available evidence for individual genes. …”
Publicado 2013
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376por Bellen, Hugo J.“…In parallel with his landmark science, he has worked to expand the toolbox available to Drosophila geneticists. He has helped develop technologies now used by the majority of Drosophila labs, advancing almost all fields of biology.…”
Publicado 2014
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377“…This paper examines the similarities and differences of two approaches to this mid-century biomedical research, comparing the work of virologist and epidemiologist Francis Black with human geneticists James V. Neel and Francisco Salzano. While both groups were interested in Indigenous populations as representatives of the past, their perspectives on epidemics diverged. …”
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378“…A separate survey of UK clinical geneticists collected demographics data, laboratory reporting practice and methods used to clarify VUS pathogenicity including classification systems. …”
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379por McGrath, Scott P., Walton, Nephi, Williams, Marc S., Kim, Katherine K., Bastola, Kiran“…METHODS: Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). …”
Publicado 2019
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380por Young, Alison Luk, Butow, Phyllis N, Tucker, Katherine M, Wakefield, Claire E, Healey, Emma, Williams, Rachel“…PARTICIPANTS: GHPs (N=73) including clinical geneticists, genetic counsellors, medical specialists, nurses, surgeons and mental health specialists (eg, psychiatrists, psychologists) who had worked with BRCA1 and BRCA2 families for an average of 9 years. …”
Publicado 2020
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