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881“…Extensive tools and sophisticated technologies allow Drosophila geneticists to identify and study evolutionarily conserved genes that are essential for neural maintenance. …”
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882por Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo“…METHODS: Patients were identified from the hospital's Genetics clinics after assessment by attending clinical geneticists. A targeted gene panel was used for next‐generation sequencing on genomic DNA extracted from the blood samples of 17 patients. …”
Publicado 2019
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883“…Therefore, a multidisciplinary collaboration among cell biologists, molecular physiologists, geneticists, and clinicians holds prospects of fine-tuning the management of SRNS caused by known mutant genes. …”
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884“…Although annotating variants is a common technique among human geneticists, the constant advances in tools and biology surrounding SNPs requires an updated summary of what is known and the trajectory of the field. …”
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885“…The AI with fresh or frozen semen has been increasingly adopted in the intensive production system, this is perhaps the most powerful tool that reproductive physiologists and geneticists have provided the dairy goat industry with for improving reproductive efficiency, genetic progress and genetic materials transportation. …”
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886“…In contrast, newly introduced physical mutagens, e.g., heavy-ion beams, have attracted geneticists’ and breeders’ interest and many studies on their mutation efficiency and mutated DNA characteristics have been conducted. …”
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887por Borie, Raphael, Kannengiesser, Caroline, Gouya, Laurent, Dupin, Clairelyne, Amselem, Serge, Ba, Ibrahima, Bunel, Vincent, Bonniaud, Philippe, Bouvry, Diane, Cazes, Aurélie, Clement, Annick, Debray, Marie Pierre, Dieude, Philippe, Epaud, Ralph, Fanen, Pascale, Lainey, Elodie, Legendre, Marie, Plessier, Aurélie, Sicre de Fontbrune, Flore, Wemeau-Stervinou, Lidwine, Cottin, Vincent, Nathan, Nadia, Crestani, Bruno“…The geneMDD group met monthly and included pediatric and adult lung specialists with ILD expertise, molecular and clinical geneticists, and one radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend. …”
Publicado 2019
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888por D’Arienzo, Antonio, Andreani, Lorenzo, Sacchetti, Federico, Colangeli, Simone, Capanna, Rodolfo“…Basic science studies have recently shown new insights about altering the molecular and cellular mechanism caused by HS deficiency. Pediatricians, geneticists and orthopedic surgeons play an important role in the study and treatment of this severe pathology. …”
Publicado 2019
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889por Kim, Jieun, Kong, Sun-Young, Han, Sung-Hee, Kim, Jong-Won, Jeon, Chang Ho, Yoo, Jongha“…CONCLUSIONS: Both patients and laboratory physicians concede the advantage of GC performed by clinical geneticists; however, the practice of GC involves several challenges and raises some concerns. …”
Publicado 2020
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890“…However, in genetic studies of complex diseases, modern geneticists face challenges in detecting interactions among loci. …”
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891por Potier, Rémy“…Rather than aiming at a numerical phenotyping of patients according to the geneticists’ model, the case formulation method appears to be a serious prerequisite to give a limited and specific place to the integration of smartphones in clinical investigation.…”
Publicado 2020
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892por Arjunan, Aishwarya, Bellerose, Holly, Torres, Raul, Ben‐Shachar, Rotem, Hoffman, Jodi D., Angle, Brad, Slotnick, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo, Kelly, Schulze, Jeanine, Tarpinian, Jennifer, Bucher, Jessica A., Dineen, Richard, Goetsch, Allison, Lazarin, Gabriel A., Johansen Taber, Katherine“…METHODS: Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. …”
Publicado 2020
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893por Xie, Hua, Liu, Fang, Zhang, Yu, Chen, Qian, Shangguan, Shaofang, Gao, Zhijie, Wu, Nan, Wang, Jian, Cui, Xiaodai, Wang, Lin, Chen, Xiaoli“…CONCLUSIONS: We have provided the frequency of the 16p11.2 microdeletion in a Chinese pediatric NDD cohort with a variable NDD phenotype from childhood to puberty, which is useful for Chinese geneticists/pediatricians to conduct the 16p11.2 microdeletion testing in children with NDDs.…”
Publicado 2020
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894por Song, Qijian, Yan, Long, Quigley, Charles, Fickus, Edward, Wei, He, Chen, Linfeng, Dong, Faming, Araya, Susan, Liu, Jinlong, Hyten, David, Pantalone, Vincent, Nelson, Randall L.“…The assay is commercialized by Illumina Inc. and being used by soybean breeders and geneticists and the list of SNPs in the assay is an ideal resource for SNP genotyping by targeted amplicon sequencing.…”
Publicado 2020
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895“…BACKGROUND: The molecular out of Africa hypothesis, OOAH, has been considered as an established fact amid population geneticists for some 25–30 years despite the early concern with it among phylogeneticists with experience beyond that of Homo. …”
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896“…Following consultations with expert stakeholders, including geneticists, pediatricians, sociologists, university hospitals directors, patient representatives, consumer protection associations, and insurers, the ELSI advisory group issued its recommendation on “Reporting actionable genetic findings to research participants” in May 2020. …”
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897“…A multidisciplinary team of heart failure specialists, electrophysiologists, geneticists, and imaging specialists is needed to collaborate in the delivery of clinical care.…”
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898por Milton, Shakira, McIntosh, Jennifer, Yogaparan, Thivagar, Alphonse, Pavithran, Saya, Sibel, Karnchanachari, Napin, Nguyen, Peter, Lau, Phyllis, Macrae, Finlay, Emery, Jon“…METHODS: Semistructured interviews were conducted with clinicians to whom the new guidelines may be applicable (Familial Cancer Clinic staff (geneticists, oncologists and genetic counsellors), gastroenterologists, pharmacists and general practitioners (GPs)). …”
Publicado 2021
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899por Gao, Guangxiong, Gao, Ning, Li, Sicheng, Kuang, Weijian, Zhu, Lin, Jiang, Wei, Yu, Weiwei, Guo, Jinbiao, Li, Zhili, Yang, Chengzhong, Zhao, Yunxiang“…Meat quality is an important trait for pig-breeding programs aiming to meet consumers’ demands. Geneticists must improve meat quality based on their understanding of the underlying genetic mechanisms. …”
Publicado 2021
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900por van der Giessen, Jeanine A.M., van Dulmen, Sandra, Velthuizen, Mary E., van den Muijsenbergh, Maria E.T.C., van Engelen, Klaartje, Collée, Margriet, van Dalen, Thijs, Aalfs, Cora M., Hooning, Maartje J., Spreeuwenberg, Peter M.M., Fransen, Mirjam P., Ausems, Margreet G.E.M.“…Six months pre- and 12 months post intervention, clinical geneticists completed a checklist with socio-demographic characteristics including the level of health literacy of each referred patient. …”
Publicado 2021
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