Lista de obras - Colleen A Campbell - Dominio Público Uruguay

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

Binding of the non-typeable Haemophilus influenzae lipooligosaccharide to the PAF receptor initiates host cell signalling.

artículo científico

Collaborative Counseling Considerations for Pharmacogenomic Tests

artículo científico publicado en 2017

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

artículo científico publicado en 2016

DNM1 encephalopathy: A new disease of vesicle fission

artículo científico publicado en 2017

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness

artículo científico publicado en 2005

Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.

artículo científico publicado en 2011

Gene expression profiling analysis of the inner ear.

artículo científico publicado en 2007

Gonococcal lipooligosaccharide is a ligand for the asialoglycoprotein receptor on human sperm.

artículo científico

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

artículo científico publicado en 2016

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.

artículo científico publicado en 2002

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

artículo científico publicado en 2015

Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population

artículo científico publicado en 2010

Receptor‐mediated endocytosis of Neisseria gonorrhoeae into primary human urethral epithelial cells: the role of the asialoglycoprotein receptor ⬇️

artículo científico publicado el 1 de noviembre de 2001

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

artículo científico publicado en 2016

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

artículo científico publicado en 2016

Lista de obras de Colleen A Campbell

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Binding of the non-typeable Haemophilus influenzae lipooligosaccharide to the PAF receptor initiates host cell signalling.

Collaborative Counseling Considerations for Pharmacogenomic Tests

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

DNM1 encephalopathy: A new disease of vesicle fission

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness

Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.

Gene expression profiling analysis of the inner ear.

Gonococcal lipooligosaccharide is a ligand for the asialoglycoprotein receptor on human sperm.

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population

Receptor‐mediated endocytosis of Neisseria gonorrhoeae into primary human urethral epithelial cells: the role of the asialoglycoprotein receptor ⬇️

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

The role of patient engagement in personalized healthcare