about
Identification of SOX3 as an XX male sex reversal gene in mice and humansCopy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex developmentPerspectives of Australian general practitioners on shared care for paediatric patients.Personal utility in genomic testing: a systematic literature review.Public or private care: where do specialists spend their time?Parental preferences for paediatric specialty follow-up care.Children referred for specialty care: Parental perspectives and preferences on referral, follow-up and primary care.Defining personal utility in genomics: A Delphi study.Preferences for results from genomic microarrays: comparing parents and health care providers.Paediatrician perceptions of patient referral and discharge.Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia.Lower urgency paediatric injuries: Parent preferences for emergency department or general practitioner care.Paediatric emergency department referrals from primary care.Parent perspectives and reasons for lower urgency paediatric presentations to emergency departments.Regular source of primary care and emergency department use of children in Victoria.Multiple-locus variable-number tandem-repeat analysis for discriminating within Salmonella enterica serovar Typhimurium definitive types and investigation of outbreaks.Motivators and barriers for paediatricians discharging patients.Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.Adaptation of couples living with a high risk of breast/ovarian cancer and the association with risk-reducing surgery.Feasibility of Coping Effectiveness Training for Caregivers of Children with Autism Spectrum Disorder: a Genetic Counseling Intervention.What proportion of paediatric specialist referrals originates from general practitioners?Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.CITED2 mutations potentially cause idiopathic premature ovarian failure.Use of a telenursing triage service by Victorian parents attending the emergency department for their child's lower urgency condition.Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes.Characterization of Escherichia coli O157:H7 in New Zealand using multiple-locus variable-number tandem-repeat analysis.Australians' views on personal genomic testing: focus group findings from the Genioz studyThe many faces of MLPAConsiderations for reporting genome results to patientsEthnic identity and engagement with genome sequencing researchGeneral practitioner referrals to paediatric specialist outpatient clinics: referral goals and parental influenceAustralians' views and experience of personal genomic testing: survey findings from the Genioz studyFragile X syndrome clinical trials: exploring parental decision-makingA primer in genomics for social and behavioral investigatorsGenetic counseling, genetic testing, and risk perceptions for breast and colorectal cancer: Results from the 2015 National Health Interview Survey
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
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name
Erin Turbitt
@ast
Erin Turbitt
@en
Erin Turbitt
@es
Erin Turbitt
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type
label
Erin Turbitt
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Erin Turbitt
@en
Erin Turbitt
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Erin Turbitt
@nl
prefLabel
Erin Turbitt
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Erin Turbitt
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Erin Turbitt
@es
Erin Turbitt
@nl
P108
P106
P108
P1153
36877007500
P31
P496
0000-0002-6650-9702