Lista de obras - Patricia Birch - Dominio Público Uruguay

An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1.

artículo científico publicado en 1997

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors

scientific article published on 14 August 2018

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions

artículo científico publicado en 2018

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

artículo científico publicado en 2007

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)

artículo científico publicado en 1999

Associations of osseous abnormalities in Neurofibromatosis 1.

artículo científico publicado en 2007

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing

artículo científico publicado en 2013

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

artículo científico publicado en 2000

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling

artículo científico publicado en 2016

Costs of caring for children with an intellectual developmental disorder

artículo científico publicado en 2015

DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

artículo científico publicado en 2016

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

artículo científico publicado en 1999

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

artículo científico publicado en 2009

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing

article

Growth charts for young children with neurofibromatosis 1 (NF1)

artículo científico publicado en 2000

Growth in North American white children with neurofibromatosis 1 (NF1)

artículo científico publicado en 2000

Increased dental caries in people with neurofibromatosis 1

artículo científico publicado en 2007

Indigenous Peoples and genomics: Starting a conversation

scientific article published on 14 December 2018

Interactive e-counselling for genetics pre-test decisions: where are we now?

artículo científico publicado en 2014

National Neurofibromatosis Foundation International Database.

artículo científico publicado en 1993

Non-optic glioma in adults and children with neurofibromatosis 1.

scientific article published on 15 February 2017

Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.

artículo científico publicado en 2009

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.

artículo científico publicado en 2016

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

artículo científico publicado en 2013

Prevalence of dental caries in children with neurofibromatosis 1

Quality of Life in NF1

article published in 2012

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.

artículo científico publicado en 2015

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.

artículo científico publicado en 2018

Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options

artículo científico publicado en 2009

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study.

artículo científico publicado en 2013

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

artículo científico publicado en 1997

Utility and limitations of genetic disease databases in clinical genetics research: a neurofibromatosis 1 database example

artículo científico publicado en 2004

Valuing gene testing in children with possible neurofibromatosis 1.

artículo científico publicado en 2011

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

scientific article published on 17 August 2012

Lista de obras de Patricia Birch

An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1.

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)

Associations of osseous abnormalities in Neurofibromatosis 1.

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling

Costs of caring for children with an intellectual developmental disorder

DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing

Growth charts for young children with neurofibromatosis 1 (NF1)

Growth in North American white children with neurofibromatosis 1 (NF1)

Increased dental caries in people with neurofibromatosis 1

Indigenous Peoples and genomics: Starting a conversation

Interactive e-counselling for genetics pre-test decisions: where are we now?

National Neurofibromatosis Foundation International Database.

Non-optic glioma in adults and children with neurofibromatosis 1.

Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

Prevalence of dental caries in children with neurofibromatosis 1

Quality of Life in NF1

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.

Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study.

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

Utility and limitations of genetic disease databases in clinical genetics research: a neurofibromatosis 1 database example

Valuing gene testing in children with possible neurofibromatosis 1.

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing