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

Scott McLean

Showing results (91-100 of 97) with videos related to

Pageof 10
Sort By:
You have reached the last page of results.This site can display upto 97 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, et al.
Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of <i>QARS</i>-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Trials|October 6, 2012
Role of multidetector computed tomography in the diagnosis and management of patients attending the rapid access chest pain clinic, The Scottish computed tomography of the heart (SCOT-HEART) trial: study protocol for randomized controlled trialDavid E Newby, Michelle C Williams, Andrew D Flapan, et al.
Pageof 10

Showing results (91-100 of 97) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 97 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, et al.
Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of <i>QARS</i>-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Trials|October 6, 2012
Role of multidetector computed tomography in the diagnosis and management of patients attending the rapid access chest pain clinic, The Scottish computed tomography of the heart (SCOT-HEART) trial: study protocol for randomized controlled trialDavid E Newby, Michelle C Williams, Andrew D Flapan, et al.
Pageof 10