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1por Harper, Peter S.“…A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. …”
Publicado 2016
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4“…Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.…”
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5por Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina“…The ‘European Board of Medical Genetics division − Clinical Laboratory Geneticist' provides now since 3 years the possibility to register as an ErCLG. …”
Publicado 2017
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6“…The aim of this study was to identify the main requirements for integrating genetic data into the EHR system from the medical geneticists' perspectives. METHODS: The research was completed in 2018 and consisted of two phases. …”
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7por Custodio, Marie Claire, Cuevas, Rosa Paula, Ynion, Jhoanne, Laborte, Alice G., Velasco, Maria Lourdes, Demont, MattyEnlace del recurso
Publicado 2019
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8por El Mecky, Julia, Johansson, Lennart, Plantinga, Mirjam, Fenwick, Angela, Lucassen, Anneke, Dijkhuizen, Trijnie, van der Hout, Annemieke, Lyle, Kate, van Langen, Irene“…Fifteen clinical laboratory geneticists took part. All (nine) Dutch clinical molecular genetics diagnostic laboratories were represented. …”
Publicado 2019
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9por Kukwa, Wojciech, Wojtowicz, Piotr, Jagielska, Beata, Sobczyk, Grzegorz, Kukwa, Andrzej, Czarnecka, Anna MEnlace del recurso
Publicado 2011
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11“…We conducted an online survey among pediatricians and geneticists from Bulgaria. The study was based on the concept of non-selective WGS for all newborns and analysis of all genes. …”
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12“…BACKGROUND: Genomic sequencing is being used more frequently in the clinic, not only by clinical geneticists, but also by other specialists (“mainstreaming”). …”
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13“…Forensic geneticists perform several forms of discursive boundary work, making distinctions between science and the criminal justice system, experts and non-experts, and good and bad science. …”
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16“…Patients referred with indications suggestive of a syndromic etiology were scheduled to see the geneticist directly via telegenetics. Other patients were scheduled to see the pediatrician and GC in person before follow-up with the geneticist if indicated. …”
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17por Reumkens, Kelly, van Oudheusden, A. J. G., Gietel-Habets, J. J. G., Tummers, M. H. E., de Die-Smulders, C. E. M., van Osch, L. A. D. M.“…Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling. Many similarities were found between the expressed preferences and needs of both stakeholder groups concerning the content, barriers and facilitating factors regarding the use of the decision aid, and its implementation. …”
Publicado 2018
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18por Stahlke, Amanda, Bell, Donavan, Dhendup, Tashi, Kern, Brooke, Pannoni, Samuel, Robinson, Zachary, Strait, Jeffrey, Smith, Seth, Hand, Brian K, Hohenlohe, Paul A, Luikart, GordonEnlace del recurso
Publicado 2020
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20por Pasquier, Laurent, Minguet, Guy, Moisdon-Chataigner, Sylvie, Jarno, Pascal, Denizeau, Philippe, Volf, Ginette, Odent, Sylvie, Moutel, Grégoire“…We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.…”
Publicado 2021
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