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981por Zhang, Wen, Li, Dong, Pang, Nan, Jiang, Li, Li, Baomin, Ye, Fanghua, He, Fang, Chen, Shimeng, Liu, Fangyun, Peng, Jing, Yin, Jinghua, Yin, Fei“…In the era of next-generation sequencing, FXS testing is more suitable as a second-tier choice and provides clinicians and geneticists with auxiliary references for tracing the etiology of ID/GDD.…”
Publicado 2022
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982por Nayagam, Jeremy S., Foskett, Pierre, Strautnieks, Sandra, Agarwal, Kosh, Miquel, Rosa, Joshi, Deepak, Thompson, Richard J.“…Sequencing cholestasis genes in selected patients with adult‐onset disease should be considered, with interpretation in close collaboration with histopathologists and geneticists.…”
Publicado 2022
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983por Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M“…Patients with high myopia were recruited by ophthalmologists and clinical geneticists. Clinical features were categorized into isolated high myopia, high myopia with other ocular involvement or with systemic involvement. …”
Publicado 2022
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984por Hallowell, Nina, Badger, Shirlene, Sauerbrei, Aurelia, Nellåker, Christoffer, Kerasidou, Angeliki“…METHODS: Semi-structured qualitative interviews (n = 20) with stakeholders (clinical geneticists, data scientists, bioinformaticians, industry and patient support group spokespersons) who design and/or work with computational phenotyping (CP) systems. …”
Publicado 2022
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985por Mizumoto, Keitaro, Kato, Kumiko, Fujinami, Kaoru, Sugita, Tadasu, Sugita, Iichiro, Hattori, Ayako, Saitoh, Shinji, Ueno, Shinji, Tsunoda, Kazushige, Iwata, Takeshi, Kondo, Mineo“…CONCLUSION AND IMPORTANCE: In children with night blindness and progressive visual dysfunction, it is important for ophthalmologists to consult clinical geneticists and pediatricians to rule out the possibility of systemic diseases such as BBS.…”
Publicado 2022
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986por Mühlbӓck, Alzbeta, van Walsem, Marleen, Nance, Martha, Arnesen, Astri, Page, Kirsty, Fisher, Alexandra, van Kampen, Manon, Nuzzi, Angela, Limpert, Roy, Fossmo, Hanne Ludt, Cruickshank, Travis, Veenhuizen, Ruth“…Guidelines for neurologists, psychiatrists, geneticists, occupational therapists, speech and language therapists, physiotherapists, dieticians, and dentists are being discussed. …”
Publicado 2023
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987por Alameh, Malak, Oliveira-Mendes, Barbara Ribeiro, Kyndt, Florence, Rivron, Jordan, Denjoy, Isabelle, Lesage, Florian, Schott, Jean-Jacques, De Waard, Michel, Loussouarn, Gildas“…The review ends with suggestions to create a unique homogeneous protocol that could be shared and adopted among scientists and that would facilitate cardiologists and geneticists in patient counseling and management.…”
Publicado 2023
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988por King, Charlie, Nielsen, Shelly, Schmanski, Andrew, Abdul‐Rahman, Omar, Fishler, Kristen P.“…In the GCC, genetic counselors led patient encounters and geneticists served as advisors, rather than primary providers. …”
Publicado 2022
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989por Kristensen, Vessela N, Tsalenko, Anya, Geisler, Jurgen, Faldaas, Anne, Grenaker, Grethe Irene, Lingjærde, Ole Christian, Fjeldstad, Ståle, Yakhini, Zohar, Lønning, Per Eystein, Børresen-Dale, Anne-Lise“…One of the greatest challenges facing human geneticists is the identification and characterization of susceptibility genes for common multifactorial diseases and their association to different quantitative phenotypic traits. …”
Publicado 2006
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990“…BACKGROUND: The diversity of visual systems in fish has long been of interest for evolutionary biologists and neurophysiologists, and has recently begun to attract the attention of molecular evolutionary geneticists. Several recent studies on the copy number and genomic organization of visual pigment proteins, the opsins, have revealed an increased opsin diversity in fish relative to most vertebrates, brought about through recent instances of opsin duplication and divergence. …”
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991por Deshayes, Caroline, Perrodou, Emmanuel, Euphrasie, Daniel, Frapy, Eric, Poch, Olivier, Bifani, Pablo, Lecompte, Odile, Reyrat, Jean-Marc“…This study provides population geneticists with a list of targets, which could undergo selective pressure and thus alters relationships between the various lineages of M. tuberculosis strains and their host. …”
Publicado 2008
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992“…BACKGROUND: The OMIM database is a tool used daily by geneticists. Syndrome pages include a Clinical Synopsis section containing a list of known phenotypes comprising a clinical syndrome. …”
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993por Hou, Liping, Phillips, Christopher, Azaro, Marco, Brzustowicz, Linda M., Bartlett, Christopher W.“…Given the ease of genotyping our specific assay contained herein, this panel represents a useful and economical panel for human geneticists.…”
Publicado 2011
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994por Chizzolini, Marzio, Galan, Alessandro, Milan, Elisabeth, Sebastiani, Adolfo, Costagliola, Ciro, Parmeggiani, Francesco“…Dissecting the clinico-genetic complexity of RP has become an attainable objective by means of large-scale research projects, in which the collaboration between ophthalmologists, geneticists, and epidemiologists becomes a crucial aspect. …”
Publicado 2011
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995por Milczarski, Paweł, Bolibok-Brągoszewska, Hanna, Myśków, Beata, Stojałowski, Stefan, Heller-Uszyńska, Katarzyna, Góralska, Magdalena, Brągoszewski, Piotr, Uszyński, Grzegorz, Kilian, Andrzej, Rakoczy-Trojanowska, Monika“…This species presents a challenge to geneticists and breeders due to its large genome containing a high proportion of repetitive sequences, self incompatibility, severe inbreeding depression and tissue culture recalcitrance. …”
Publicado 2011
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996“…Evaluation was performed as a two stage process with the assistance of domain experts (geneticists). The initial evaluation drove the iterative implementation of further features in the software prototype, as required by the users, prior to a final functional evaluation of the pedigree display for exploring the various error types, data scales and structures. …”
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997por Comas, Louise H., Becker, Steven R., Cruz, Von Mark V., Byrne, Patrick F., Dierig, David A.“…Geneticists and breeders are positioned to breed plants with root traits that improve productivity under drought. …”
Publicado 2013
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998por Rodenburg, Jonne, Cissoko, Mamadou, Kayeke, Juma, Dieng, Ibnou, Khan, Zeyaur R., Midega, Charles A.O., Onyuka, Enos A., Scholes, Julie D.“…These findings are highly relevant to rice agronomists and breeders and molecular geneticists working on Striga resistance. In addition, cultivars combining broad-spectrum resistance with good grain yields in Striga-infested fields can be recommended to rice farmers in Striga-prone areas.…”
Publicado 2015
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999“…BACKGROUND: The large amount of data used in genomic analysis has allowed geneticists to achieve some understanding of the genetic architecture of complex traits. …”
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1000por Aradhya, Mallikarjuna, Velasco, Dianne, Ibrahimov, Zakir, Toktoraliev, Biimyrza, Maghradze, David, Musayev, Mirza, Bobokashvili, Zviadi, Preece, John E.“…The distribution and survival of trees during the last glacial maximum (LGM) has been of interest to paleoecologists, biogeographers, and geneticists. Ecological niche models that associate species occurrence and abundance with climatic variables are widely used to gain ecological and evolutionary insights and to predict species distributions over space and time. …”
Publicado 2017
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