Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Denise M Kay

Showing results (51-60 of 73) with videos related to

Pageof 8
Sort By:
American Journal of Medical Genetics. Part A|December 15, 2015
Rare copy number variants implicated in posterior urethral valvesNansi S Boghossian, Robert J Sicko, Denise M Kay, et al.
American Journal of Medical Genetics. Part A|February 2, 2022
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor geneFaith Pangilinan, David Watkins, David Bernard, et al.
Endocrine-Related Cancer|May 24, 2017
Loss-of-function mutations in the <i>CABLES1</i> gene are a novel cause of Cushing's diseaseLaura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, et al.
International Journal of Neonatal Screening|November 22, 2022
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk FactorsMartin Kharrazi, Charlene Sacramento, Anne Marie Comeau, et al.
American Journal of Medical Genetics. Part A|August 6, 2021
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 childrenGeorgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
Archives of Neurology|November 10, 2010
SNCA variant associated with Parkinson disease and plasma alpha-synuclein levelIgnacio F Mata, Min Shi, Pinky Agarwal, et al.
Frontiers in Endocrinology|July 28, 2020
Rare Germline <i>DICER1</i> Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?Idoia Martínez de LaPiscina, Laura C Hernández-Ramírez, Nancy Portillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York StateMelissa P Wasserstein, Mary Andriola, Georgianne Arnold, et al.
Human Mutation|November 6, 2015
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse PopulationErin E Hughes, Colleen F Stevens, Carlos A Saavedra-Matiz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experienceJoseph J Orsini, Denise M Kay, Carlos A Saavedra-Matiz, et al.
Pageof 8

Showing results (51-60 of 73) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|December 15, 2015
Rare copy number variants implicated in posterior urethral valvesNansi S Boghossian, Robert J Sicko, Denise M Kay, et al.
American Journal of Medical Genetics. Part A|February 2, 2022
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor geneFaith Pangilinan, David Watkins, David Bernard, et al.
Endocrine-Related Cancer|May 24, 2017
Loss-of-function mutations in the <i>CABLES1</i> gene are a novel cause of Cushing's diseaseLaura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, et al.
International Journal of Neonatal Screening|November 22, 2022
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk FactorsMartin Kharrazi, Charlene Sacramento, Anne Marie Comeau, et al.
American Journal of Medical Genetics. Part A|August 6, 2021
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 childrenGeorgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
Archives of Neurology|November 10, 2010
SNCA variant associated with Parkinson disease and plasma alpha-synuclein levelIgnacio F Mata, Min Shi, Pinky Agarwal, et al.
Frontiers in Endocrinology|July 28, 2020
Rare Germline <i>DICER1</i> Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?Idoia Martínez de LaPiscina, Laura C Hernández-Ramírez, Nancy Portillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York StateMelissa P Wasserstein, Mary Andriola, Georgianne Arnold, et al.
Human Mutation|November 6, 2015
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse PopulationErin E Hughes, Colleen F Stevens, Carlos A Saavedra-Matiz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experienceJoseph J Orsini, Denise M Kay, Carlos A Saavedra-Matiz, et al.
Pageof 8