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1081“…Close collaborative efforts between clinicians, geneticists, biologists, and chemical and medical engineers will be needed to provide tailored therapeutics for the various types of vascular diseases.…”
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1082“…CONCLUSIONS: This weighted likelihood ROA inference approach can assist population- and disease-geneticists working with a wide variety of data types and species to explore ROA patterns and to identify genomic regions with differential ROA signals among groups, thereby advancing our understanding of evolutionary history and the role of recessive variation in phenotypic variation and disease. …”
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1083“…Chetverikov and A.S. Serebrovsky, geneticists who made important conceptual contributions to studies of chromosomes and genes, population genetics and evolutionary theory as early as in the beginning of the XX-th century. …”
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1084por Gan, Jing, Cai, Qianyun, Galer, Peter, Ma, Dan, Chen, Xiaolu, Huang, Jichong, Bao, Shan, Luo, Rong“…The 5 research categories display publication hot spots and trends in epilepsy genetics research which could consequently supply some direction for geneticists and epileptologists when launching new projects.…”
Publicado 2019
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1085“…Interestingly, population-specific carrier frequencies of loss-of-function variants in SLC genes associated with recessive Mendelian disease recapitulated the ethnogeographic variation of the corresponding disorders, including cystinuria in Jewish individuals, type II citrullinemia in East Asians, and lysinuric protein intolerance in Finns, thus providing a powerful resource for clinical geneticists to inform about population-specific prevalence and allelic composition of Mendelian SLC diseases. …”
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1086por Asefa, Mengesha, Cao, Min, He, Yunyun, Mekonnen, Ewuketu, Song, Xiaoyang, Yang, Jie“…These gaps in our knowledge represent an opportunity for ecologists, geneticists, evolutionary biologists, conservation biologists, and other experts to investigate the biodiversity status and the complex ecological processes involved in structuring vegetation dynamics so as to help take effective conservation actions.…”
Publicado 2020
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1087“…This targeted GBS approach is a cost-efficient strategy for assessment of the genetic basis of complex traits and can enable geneticists and breeders to identify novel loci and targets for marker-assisted breeding more efficiently.…”
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1088por Bakhuizen, Jette J., Hopman, Saskia M. J., Bosscha, Machteld I., Dommering, Charlotte J., van den Heuvel-Eibrink, Marry M., Hol, Janna A., Kester, Lennart A., Koudijs, Marco J., Langenberg, Karin P. S., Loeffen, Jan L. C., van der Lugt, Jasper, Moll, Annette C., van Noesel, Max M., Smetsers, Stephanie E., de Vos-Kerkhof, Evelien, Merks, Johannes H. M., Kuiper, Roland P., Jongmans, Marjolijn C. J.“…EXPOSURES: As part of routine diagnostics, pediatric oncologists and ophthalmologists checked for characteristics of CPSs and selected children for referral to clinical geneticists and genetic testing. MAIN OUTCOMES AND MEASURES: Detected cancer predisposition syndromes. …”
Publicado 2023
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1089por Long, Janet C., Pomare, Chiara, Best, Stephanie, Boughtwood, Tiffany, North, Kathryn, Ellis, Louise A., Churruca, Kate, Braithwaite, Jeffrey“…Key players were the Australian Genomics Manager, two clinical geneticists and four Operational staff members. Most influential sources of learning were hands on learning, shared decision making, journal articles and conference presentations in contrast to formal courses. …”
Publicado 2019
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1090por Chen, Pengyu, Wu, Jian, Luo, Li, Gao, Hongyan, Wang, Mengge, Zou, Xing, Li, Yingxiang, Chen, Gang, Luo, Haibo, Yu, Limei, Han, Yanyan, Jia, Fuquan, He, Guanglin“…Recently, population geneticists have paid more attention to the genetic polymorphisms and background of southern-Han Chinese and southern native populations. …”
Publicado 2019
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1091por Domínguez-González, Cristina, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A., Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, M. Dolores, Martí, Ramon, Paradas, Carmen“…MAIN BODY: This collaboration spans research and clinical care, including laboratory scientists, adult and pediatric neuromuscular clinicians, geneticists, and pathologists, and has resulted in diagnosis and consolidation of care for patients with TK2d. …”
Publicado 2021
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1092por Oliveri, Serena, Ongaro, Giulia, Cutica, Ilaria, Menicucci, Giulia, Belperio, Debora, Spinella, Francesca, Pravettoni, Gabriella“…CONCLUSIONS: Our findings indicate the paramount role of gynecologist and other health care providers, such as geneticists and psychologists, is to support decision-making process in NIPT, in order to overcome people’s deficits in genetic knowledge, promote awareness about their preferences, and control anxiety related to the unborn child. …”
Publicado 2023
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1093por Edwards, Chris, Dooley, Fred C, Gonzalez, Sandra, Austin, Thomas M, Gravenstein, Nikolaus“…Improving the documentation of index cases of MH and increasing referrals to clinical geneticists and genetic testing may be a viable route to decreasing the proportion of suspected MHS patients with a poorly characterized risk profile.…”
Publicado 2023
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1094por Gaur, Rashmi, Sethy, Niroj K, Choudhary, Shalu, Shokeen, Bhumika, Gupta, Varsha, Bhatia, Sabhyata“…This study is a major contribution towards providing advanced genomic resources which will facilitate chickpea geneticists and molecular breeders in developing superior genotypes with improved traits.…”
Publicado 2011
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1095“…BACKGROUND: Testing for mutations in the BRCA1 and BRCA2 genes among high-risk breast cancer patients has become a routine practice among clinical geneticists. Unfortunately, however, the genetic background of a majority of the cases coming to the clinics remains currently unexplained, making genetic counseling rather challenging. …”
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1096por James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.“…The tool also provides a simple interface for translating free-text clinical notes into HPO terms, enabling clinical providers and geneticists to contribute phenotypes to the diagnostic process. …”
Publicado 2016
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1097por Pilichou, Kalliopi, Thiene, Gaetano, Bauce, Barbara, Rigato, Ilaria, Lazzarini, Elisabetta, Migliore, Federico, Perazzolo Marra, Martina, Rizzo, Stefania, Zorzi, Alessandro, Daliento, Luciano, Corrado, Domenico, Basso, Cristina“…We review the current knowledge of this rare cardiomyopathy, suggesting a flowchart for primary care clinicians and geneticists.…”
Publicado 2016
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1098por Weickert, Cynthia Shannon“…Today, many of my fellow seekers including geneticists (Chr 6, MHC locus) and epidemiologists (maternal infection) and “animal modelers” (poly I:C) are suggesting that the cause of schizophrenia may involve changes to the immune system. …”
Publicado 2018
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1099por de Silva, Rajith, Greenfield, Julie, Cook, Arron, Bonney, Harriet, Vallortigara, Julie, Hunt, Barry, Giunti, Paola“…These guidelines are aimed predominantly at HCPs in secondary care (such as general neurologists, clinical geneticists, physiotherapists, speech and language therapists, occupational therapists, etc.) who provide care for individuals with progressive ataxia and their families, and not ataxia specialists. …”
Publicado 2019
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1100por Johnson, Blaine T, Amrine, David E, Larson, Robert L, Weaber, Robert L, White, Brad J“…Heart disease, specifically congestive heart failure, has become of increased interest to geneticists and cattle feeders. Data on cohort associations of risk factors related to heart disease and when heart disease deaths occur in U.S. feedlot cattle are limited. …”
Publicado 2021
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