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Molecular Genetics and Metabolism
|
July 20, 2010
Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)
Barbara K Burton, Heather Bausell, Rachel Katz, et al.
JCO Precision Oncology
|
January 20, 2022
RNA-Seq Analysis Is a Useful Tool in Variant Classification
Rachid Karam, Holly LaDuca, Marcy E Richardson, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
May 18, 2017
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome
Carin R Espenschied, Holly LaDuca, Shuwei Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 29, 2018
Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical
Stephany Tandy-Connor, Kate Krempely, Tina Pesaran, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2026
Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions
Sami Belhadj, Christopher J Hatch, Holly LaDuca, et al.
JCO Precision Oncology
|
January 7, 2022
Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes
Junne Kamihara, Carrie Horton, Yuan Tian, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
|
December 18, 2018
Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-Associated Genes in Patients With Multiple Colorectal Polyps
Peter P Stanich, Rachel Pearlman, Alice Hinton, et al.
Cancer Genetics
|
October 19, 2016
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers
Tracey P Leedom, Holly LaDuca, Rachel McFarland, et al.
Cold Spring Harbor Molecular Case Studies
|
October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical data
Felicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
Familial Cancer
|
December 25, 2018
Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort
Kelly Fulk, Holly LaDuca, Mary Helen Black, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 66) with videos related to
Sort By:
Page
of 7
Molecular Genetics and Metabolism
|
July 20, 2010
Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)
Barbara K Burton, Heather Bausell, Rachel Katz, et al.
JCO Precision Oncology
|
January 20, 2022
RNA-Seq Analysis Is a Useful Tool in Variant Classification
Rachid Karam, Holly LaDuca, Marcy E Richardson, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
May 18, 2017
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome
Carin R Espenschied, Holly LaDuca, Shuwei Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 29, 2018
Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical
Stephany Tandy-Connor, Kate Krempely, Tina Pesaran, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2026
Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions
Sami Belhadj, Christopher J Hatch, Holly LaDuca, et al.
JCO Precision Oncology
|
January 7, 2022
Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes
Junne Kamihara, Carrie Horton, Yuan Tian, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
|
December 18, 2018
Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-Associated Genes in Patients With Multiple Colorectal Polyps
Peter P Stanich, Rachel Pearlman, Alice Hinton, et al.
Cancer Genetics
|
October 19, 2016
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers
Tracey P Leedom, Holly LaDuca, Rachel McFarland, et al.
Cold Spring Harbor Molecular Case Studies
|
October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical data
Felicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
Familial Cancer
|
December 25, 2018
Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort
Kelly Fulk, Holly LaDuca, Mary Helen Black, et al.
Page
of 7