“…We evaluated the experience and retention of information in women with an uninformative BRCA test result and who were not considered at high risk due to their personal/family history of cancer who underwent geneticist‐supervised nurse‐driven genetic counseling and who received their test result by phone. …”
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“…OBJECTIVE: To describe the first 3 years of experience of having an inpatient “cardiogenetics” program which involves medical geneticist assessment of infants with major congenital heart disease (CHD) requiring surgical intervention in the first year of life. …”
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“…There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature. …”
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“…To maximize the potential clinical utility of this approach, global data sharing and phenotyping are needed, and the role of the geneticist in the interpretation of variation is vital.…”
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“…Elizabeth McNally is a human geneticist and a cardiologist whose research has been instrumental in understanding the mechanisms of inherited heart and skeletal muscle diseases. …”
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“…We will be able to identify limited access to care in Puerto Rico, especially in the testing pre-authorization process and long waits for geneticist appointments. Demand for advanced diagnostics is above the number of medical geneticists available in Puerto Rico, which triggers delayed diagnosis, management, and counseling. …”
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“…More than 20 years before DNA was identified as the hereditary material, the Drosophila geneticist, Hermann Muller, envisioned the fundamental principles that such a molecule must have: to be auto-assembling and to be mutable but then again stable. …”
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“…Here we summarize the tools, techniques, and resources available to the Ciona geneticist, citing examples of studies that employed such strategies in the elucidation of gene function in Ciona. …”
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“…Any surgeon treating a patient with adrenal disease should be a member of a multi-disciplinary team involving dedicated specialists, including an endocrinologist, anaesthetist, radiologist, intensivist and geneticist. In an era of epidemic numbers of adrenal incidentalomas, great care must be taken to determine not only the endocrine diagnosis, but also the benefits (if any) of adrenal surgery. …”
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“…Jeffrey Friedman is a molecular geneticist whose group, in 1994, reported the long-sought identity and function of leptin (Zhang et al., 1994), a key fat-derived hormone that regulates feeding behaviour and body weight. …”
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“…In particular, we describe our joint pediatric-genetics clinic with a visiting clinical geneticist that was established in 2011 to provide clinical genetics services for the pediatric population of the Dutch Caribbean.…”
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“…Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. …”
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“…On the basis of these results, we encourage standard genetic testing after counseling by a clinical geneticist.…”
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“…The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management.…”
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“…Each gene discovery has a new story to tell but inevitably generates further questions. For the clinical geneticist and, perhaps more importantly, for patients and their families, many of these recent discoveries have yielded information which has immediate implications for diagnostic testing, family and population screening and prenatal testing. …”
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“…Hearing loss is one of the most common concerns for presentation for a geneticist. Presentation prior to the age of one (congenital hearing loss), profound sensorineural hearing loss (SNHL), and bilateral hearing loss are sensitive and should raise concern for genetic causes of hearing loss and prompt referral for genetic testing. …”
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“…A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. …”
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“…Skeletal survey revealed subacute spiral fracture of the right humerus, right posterior eighth and ninth ribs, acute fracture of the left femur, bowing of tibia and femur, and osteopenia. Subsequent geneticist examination and genetic testing noted blue sclera and heterozygosity for a variant of COL1A gene.…”
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“…These cases are best managed by a multi-disciplenary team comprising of gynecologist, geneticist, endocrinologist and clinical psycologist or psychiatrist.…”
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“…GenPop is a web based online cross platform tool developed to help Geneticist and Epidemiologist to deal with association studies in analyzing human population genetic data. …”
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