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J Dowling

Showing results (481-490 of 493) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
JAMA Neurology|January 8, 2019
Mediation of the Relationship Between Endovascular Therapy and Functional Outcome by Follow-up Infarct Volume in Patients With Acute Ischemic StrokeAnna M M Boers, Ivo G H Jansen, Scott Brown, et al.
Journal of Neurointerventional Surgery|April 9, 2018
Association of follow-up infarct volume with functional outcome in acute ischemic stroke: a pooled analysis of seven randomized trialsAnna M M Boers, Ivo G H Jansen, Ludo F M Beenen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Frontiers in Endocrinology|March 8, 2021
Correspondence Between Perceived Pubertal Development and Hormone Levels in 9-10 Year-Olds From the Adolescent Brain Cognitive Development StudyMegan M Herting, Kristina A Uban, Marybel Robledo Gonzalez, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Drug and Alcohol Dependence|August 15, 2021
Substance use patterns in 9-10 year olds: Baseline findings from the adolescent brain cognitive development (ABCD) studyKrista M Lisdahl, Susan Tapert, Kenneth J Sher, et al.
Pageof 50

Showing results (481-490 of 493) with videos related to

Sort By:
Pageof 50
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
JAMA Neurology|January 8, 2019
Mediation of the Relationship Between Endovascular Therapy and Functional Outcome by Follow-up Infarct Volume in Patients With Acute Ischemic StrokeAnna M M Boers, Ivo G H Jansen, Scott Brown, et al.
Journal of Neurointerventional Surgery|April 9, 2018
Association of follow-up infarct volume with functional outcome in acute ischemic stroke: a pooled analysis of seven randomized trialsAnna M M Boers, Ivo G H Jansen, Ludo F M Beenen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.
Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Frontiers in Endocrinology|March 8, 2021
Correspondence Between Perceived Pubertal Development and Hormone Levels in 9-10 Year-Olds From the Adolescent Brain Cognitive Development StudyMegan M Herting, Kristina A Uban, Marybel Robledo Gonzalez, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Drug and Alcohol Dependence|August 15, 2021
Substance use patterns in 9-10 year olds: Baseline findings from the adolescent brain cognitive development (ABCD) studyKrista M Lisdahl, Susan Tapert, Kenneth J Sher, et al.
Pageof 50