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Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
April 13, 2021
Normal pancreatic function and false-negative CF newborn screen in a child born to a mother taking CFTR modulator therapy during pregnancy
Christopher N Fortner, Julie M Seguin, Denise M Kay
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 8, 2005
Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation
Denise M Kay, Patricia Kramer, Don Higgins, et al.
Pediatric Neurology
|
August 10, 2011
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry
Patricia K Duffner, Amy Barczykowski, Kabir Jalal, et al.
Genetic Epidemiology
|
July 8, 2009
Visualizing disease associations: graphic analysis of frequency distributions as a function of age using moving average plots (MAP) with application to Alzheimer's and Parkinson's disease
Haydeh Payami, Denise M Kay, Cyrus P Zabetian, et al.
Pediatric Neurology
|
April 24, 2012
Later onset phenotypes of Krabbe disease: results of the world-wide registry
Patricia K Duffner, Amy Barczykowski, Denise M Kay, et al.
International Journal of Neonatal Screening
|
November 29, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening
Robert J Sicko, Colleen F Stevens, Erin E Hughes, et al.
The Journal of Molecular Diagnostics : JMD
|
October 17, 2021
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls
Robert J Sicko, Paul A Romitti, Marilyn L Browne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2022
Genetic drivers of Cushing's disease: Frequency and associated phenotypes
Laura C Hernández-Ramírez, Nathan Pankratz, John Lane, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 30, 2011
Disease-related and genetic correlates of psychotic symptoms in Parkinson's disease
Stewart A Factor, N Kyle Steenland, Donald S Higgins, et al.
Human Genetics
|
November 26, 2011
Folate and vitamin B12-related genes and risk for omphalocele
James L Mills, Tonia C Carter, Denise M Kay, et al.
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Search research articles
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Showing results (1-10 of 73) with videos related to
Sort By:
Page
of 8
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
April 13, 2021
Normal pancreatic function and false-negative CF newborn screen in a child born to a mother taking CFTR modulator therapy during pregnancy
Christopher N Fortner, Julie M Seguin, Denise M Kay
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 8, 2005
Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation
Denise M Kay, Patricia Kramer, Don Higgins, et al.
Pediatric Neurology
|
August 10, 2011
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry
Patricia K Duffner, Amy Barczykowski, Kabir Jalal, et al.
Genetic Epidemiology
|
July 8, 2009
Visualizing disease associations: graphic analysis of frequency distributions as a function of age using moving average plots (MAP) with application to Alzheimer's and Parkinson's disease
Haydeh Payami, Denise M Kay, Cyrus P Zabetian, et al.
Pediatric Neurology
|
April 24, 2012
Later onset phenotypes of Krabbe disease: results of the world-wide registry
Patricia K Duffner, Amy Barczykowski, Denise M Kay, et al.
International Journal of Neonatal Screening
|
November 29, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening
Robert J Sicko, Colleen F Stevens, Erin E Hughes, et al.
The Journal of Molecular Diagnostics : JMD
|
October 17, 2021
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls
Robert J Sicko, Paul A Romitti, Marilyn L Browne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2022
Genetic drivers of Cushing's disease: Frequency and associated phenotypes
Laura C Hernández-Ramírez, Nathan Pankratz, John Lane, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 30, 2011
Disease-related and genetic correlates of psychotic symptoms in Parkinson's disease
Stewart A Factor, N Kyle Steenland, Donald S Higgins, et al.
Human Genetics
|
November 26, 2011
Folate and vitamin B12-related genes and risk for omphalocele
James L Mills, Tonia C Carter, Denise M Kay, et al.
Page
of 8