“…The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. …”
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“…Kym Boycott is currently a Clinical Geneticist at the Children's Hospital of Eastern Ontario (CHEO) and a Senior Scientist at the CHEO Research Institute, in Canada, where she tries to better understand mechanisms of rare genetic diseases and improve the management of pediatric patients with these conditions. …”
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“…In 1989, an integrated counseling protocol (geneticist, psychologist, and neurologist) was developed following International Guidelines. …”
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“…The patient was examined by a pluridisciplinary staff of clinicians and geneticist. The clinical diagnosis of NS and IP was confirmed by molecular investigations. …”
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“…Therefore, this qualitative study aims to gain insight in the process of information exchange between patients diagnosed with LS and their non-genetic (i.e., general practitioner, gastroenterologist, gynaecologist) and genetic (i.e., clinical geneticist or genetic counsellor) health professionals concerning referral for genetic counselling and follow-up care. …”
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“…Potential approaches include: requiring medical genetics coursework, developing community genetics services, and increasing jobs for medical geneticists.…”
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“…Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post‐mortem investigations were collected. …”
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“…These are gestational surrogacy and uterine transplant, which arise partly from gendered, pronatalist, and geneticist norms. These practices are supported by assumptions about women’s identity and value. …”
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“…Families discussed the results and any potential medical follow‐up in an appointment with a board certified clinical geneticist. CONCLUSION: Our study suggests high yield of exome sequencing as a diagnostic tool in adult patients with ID who have not undergone comprehensive sequencing‐based genetic testing. …”
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“…In the 1910s, the German-Jewish geneticist Richard B. Goldschmidt conducted experiments on the moth Lymantria dispar, and discovered individuals that were no longer clearly identifiable as male or female. …”
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“…This approach illustrates the clinical utility of DNAm signatures in the diagnostic workflow for the genome analyst or clinical geneticist—especially for disorders with overlapping clinical phenotypes.…”
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“…The multidisciplinary team should include a hematologist, an obstetrician, a pediatric hematologist, an anesthesiologist, and in select cases a clinical geneticist and a maternal fetal medicine specialist. …”
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“…Furthermore, our findings suggest that (1) true consent for having this test requires timely information about the possible implications of a positive test result for specific categories of findings, as well as about the success rates of the available reproductive options; (2) the clinical geneticist can play a pivotal part in informing participants as well as providing clear information about autosomal recessive inheritance; (3) more research is needed to explore what type of genetic risk information is considered ‘meaningful’ by participants and actually contributes to reproductive decision-making.…”
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“…METHODS: Thirty-four male and 64 female candidates had genetic counseling with a medical geneticist before donation. Of these, one female candidate voluntarily dropped-out. …”
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“…Unfortunately, this uncertainty has no solution because the geneticist has no control over the magnitude and sign of the environment and GxE interaction effects. …”
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“…All women had been counselled by a Consultant Cancer Geneticist and were given verbal and written information on the effect of life style on breast cancer risk. …”
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“…Of note, 55.2% of participants received their diagnosis from a neurologist, 18.2% from a clinical geneticist, and 11.8% from a metabolic disease specialist. …”
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“…CONCLUSION: There is an important need for GP training and enhancing interactions between GPs and geneticists to improve the GP's role in BRCA1/2 screening and management.…”
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“…She was referred to a pediatric geneticist to rule out any medical conditions. She was suspected to have ectodermal dysplasia (ED). …”
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“…METHODS: We submitted online three cases of Turner syndrome (increased nuchal translucency, normal ultrasound, aortic coarctation) to fetal medicine experts: one obstetrician, one pediatrician and one geneticist in each of the ten Parisian centers. Each case was presented in the form of a progressive clinical history with conditional links dependent upon responses. …”
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