Lista de obras - Erin Turbitt - Dominio Público Uruguay

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

artículo científico publicado en 2011

A primer in genomics for social and behavioral investigators

scientific article published on 22 February 2019

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study

artículo científico publicado en 2018

Adaptation of couples living with a high risk of breast/ovarian cancer and the association with risk-reducing surgery

artículo científico publicado en 2017

Australians' perspectives on support around use of personal genomic testing: Findings from the Genioz study

artículo científico publicado en 2018

Australians' views and experience of personal genomic testing: survey findings from the Genioz study

scientific article published on 21 January 2019

Australians' views on personal genomic testing: focus group findings from the Genioz study

article

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings

artículo científico publicado en 2014

CITED2 mutations potentially cause idiopathic premature ovarian failure.

artículo científico publicado en 2012

Characterization of Escherichia coli O157:H7 in New Zealand using multiple-locus variable-number tandem-repeat analysis.

artículo científico publicado en 2010

Children referred for specialty care: Parental perspectives and preferences on referral, follow-up and primary care

artículo científico publicado en 2016

Considerations for reporting genome results to patients

artículo científico publicado en 2013

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

artículo científico publicado en 2011

Defining personal utility in genomics: A Delphi study

artículo científico publicado en 2017

Ethnic identity and engagement with genome sequencing research

artículo científico publicado en 2018

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

artículo científico publicado en 2014

Feasibility of Coping Effectiveness Training for Caregivers of Children with Autism Spectrum Disorder: a Genetic Counseling Intervention.

artículo científico publicado en 2017

Fragile X syndrome clinical trials: exploring parental decision-making

artículo científico publicado en 2019

General practitioner referrals to paediatric specialist outpatient clinics: referral goals and parental influence

scientific article published on 01 March 2018

Genetic counseling, genetic testing, and risk perceptions for breast and colorectal cancer: Results from the 2015 National Health Interview Survey

artículo científico publicado en 2019

Identification of SOX3 as an XX male sex reversal gene in mice and humans

artículo científico publicado en 2011

Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes.

artículo científico publicado en 2018

Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia

artículo científico publicado en 2013

Lower urgency paediatric injuries: Parent preferences for emergency department or general practitioner care

artículo científico publicado en 2016

Managing the need to tell: Triggers and strategic disclosure of thalassemia major in Singapore

scientific article published on 01 March 2019

Molecular phylogenetic analysis of New Zealand mosquito species

artículo científico

Motivators and barriers for paediatricians discharging patients

artículo científico publicado en 2016

Multiple-locus variable-number tandem-repeat analysis for discriminating within Salmonella enterica serovar Typhimurium definitive types and investigation of outbreaks.

artículo científico publicado en 2010

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

artículo científico publicado en 2015

Paediatric emergency department referrals from primary care.

artículo científico publicado en 2016

Paediatrician perceptions of patient referral and discharge

artículo científico publicado en 2016

Parent perspectives and reasons for lower urgency paediatric presentations to emergency departments.

artículo científico publicado en 2016

Parental decision making about clinical trial enrollment: A survey of parents of children with Fragile X syndrome

artículo científico publicado en 2020

Parental preferences for paediatric specialty follow-up care.

artículo científico publicado en 2016

Personal utility in genomic testing: a systematic literature review.

artículo científico publicado en 2017

Perspectives of Australian general practitioners on shared care for paediatric patients

artículo científico

Preferences for results from genomic microarrays: comparing parents and health care providers.

artículo científico publicado en 2014

Public or private care: where do specialists spend their time?

artículo científico publicado en 2016

Regular source of primary care and emergency department use of children in Victoria.

artículo científico publicado en 2015

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

artículo científico publicado en 2012

The many faces of MLPA

artículo científico publicado en 2011

Use of a telenursing triage service by Victorian parents attending the emergency department for their child's lower urgency condition

artículo científico publicado en 2015

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.

artículo científico publicado en 2018

What proportion of paediatric specialist referrals originates from general practitioners?

artículo científico publicado en 2017

Lista de obras de Erin Turbitt

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

A primer in genomics for social and behavioral investigators

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study

Adaptation of couples living with a high risk of breast/ovarian cancer and the association with risk-reducing surgery

Australians' perspectives on support around use of personal genomic testing: Findings from the Genioz study

Australians' views and experience of personal genomic testing: survey findings from the Genioz study

Australians' views on personal genomic testing: focus group findings from the Genioz study

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings

CITED2 mutations potentially cause idiopathic premature ovarian failure.

Characterization of Escherichia coli O157:H7 in New Zealand using multiple-locus variable-number tandem-repeat analysis.

Children referred for specialty care: Parental perspectives and preferences on referral, follow-up and primary care

Considerations for reporting genome results to patients

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

Defining personal utility in genomics: A Delphi study

Ethnic identity and engagement with genome sequencing research

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

Feasibility of Coping Effectiveness Training for Caregivers of Children with Autism Spectrum Disorder: a Genetic Counseling Intervention.

Fragile X syndrome clinical trials: exploring parental decision-making

General practitioner referrals to paediatric specialist outpatient clinics: referral goals and parental influence

Genetic counseling, genetic testing, and risk perceptions for breast and colorectal cancer: Results from the 2015 National Health Interview Survey

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes.

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

Managing the need to tell: Triggers and strategic disclosure of thalassemia major in Singapore

Molecular phylogenetic analysis of New Zealand mosquito species

Motivators and barriers for paediatricians discharging patients

Multiple-locus variable-number tandem-repeat analysis for discriminating within Salmonella enterica serovar Typhimurium definitive types and investigation of outbreaks.

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

Paediatric emergency department referrals from primary care.

Paediatrician perceptions of patient referral and discharge

Parent perspectives and reasons for lower urgency paediatric presentations to emergency departments.

Parental decision making about clinical trial enrollment: A survey of parents of children with Fragile X syndrome

Parental preferences for paediatric specialty follow-up care.

Personal utility in genomic testing: a systematic literature review.

Perspectives of Australian general practitioners on shared care for paediatric patients

Preferences for results from genomic microarrays: comparing parents and health care providers.

Public or private care: where do specialists spend their time?

Regular source of primary care and emergency department use of children in Victoria.

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

The many faces of MLPA

Use of a telenursing triage service by Victorian parents attending the emergency department for their child's lower urgency condition

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.

What proportion of paediatric specialist referrals originates from general practitioners?