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L Harms

Showing results (121-130 of 144) with videos related to

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Brain : a Journal of Neurology|October 25, 2021
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardationLeonie von Elsner, Guoliang Chai, Pauline E Schneeberger, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
JAMA Dermatology|April 14, 2017
Molecular Profiling of Multiple Primary Merkel Cell Carcinoma to Distinguish Genetically Distinct Tumors From Clonally Related MetastasesKelly L Harms, Lorena Lazo de la Vega, Daniel H Hovelson, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|August 18, 2024
Squamoid Eccrine Ductal Carcinoma Displays Ultraviolet Mutations and Intermediate Gene Expression Relative to Squamous Cell Carcinoma, Microcystic Adnexal Carcinoma, and PorocarcinomaPaul W Harms, Mason Runge, May P Chan, et al.
Human Pathology|June 17, 2020
A genomic survey of sarcomas on sun-exposed skin reveals distinctive candidate drivers and potentially targetable mutationsTimothy I Miller, Nicholas A Zoumberos, Bryan Johnson, et al.
Brain : a Journal of Neurology|June 21, 2022
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injuryAndrew R Mayer, Josef M Ling, Andrew B Dodd, et al.
Journal of Surgical Oncology|July 18, 2017
The natural history of thin melanoma and the utility of sentinel lymph node biopsyAlison B Durham, Jennifer L Schwartz, Lori Lowe, et al.
NPJ Digital Medicine|December 18, 2023
Augmented reality versus standard tests to assess cognition and function in early Alzheimer's diseaseMarijn Muurling, Casper de Boer, Srinivasan Vairavan, et al.
Brain : a Journal of Neurology|February 2, 2018
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathyJuliette Piard, George K Essien Umanah, Frederike L Harms, et al.
Pageof 15

Showing results (121-130 of 144) with videos related to

Sort By:
Pageof 15
Brain : a Journal of Neurology|October 25, 2021
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardationLeonie von Elsner, Guoliang Chai, Pauline E Schneeberger, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
JAMA Dermatology|April 14, 2017
Molecular Profiling of Multiple Primary Merkel Cell Carcinoma to Distinguish Genetically Distinct Tumors From Clonally Related MetastasesKelly L Harms, Lorena Lazo de la Vega, Daniel H Hovelson, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|August 18, 2024
Squamoid Eccrine Ductal Carcinoma Displays Ultraviolet Mutations and Intermediate Gene Expression Relative to Squamous Cell Carcinoma, Microcystic Adnexal Carcinoma, and PorocarcinomaPaul W Harms, Mason Runge, May P Chan, et al.
Human Pathology|June 17, 2020
A genomic survey of sarcomas on sun-exposed skin reveals distinctive candidate drivers and potentially targetable mutationsTimothy I Miller, Nicholas A Zoumberos, Bryan Johnson, et al.
Brain : a Journal of Neurology|June 21, 2022
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injuryAndrew R Mayer, Josef M Ling, Andrew B Dodd, et al.
Journal of Surgical Oncology|July 18, 2017
The natural history of thin melanoma and the utility of sentinel lymph node biopsyAlison B Durham, Jennifer L Schwartz, Lori Lowe, et al.
NPJ Digital Medicine|December 18, 2023
Augmented reality versus standard tests to assess cognition and function in early Alzheimer's diseaseMarijn Muurling, Casper de Boer, Srinivasan Vairavan, et al.
Brain : a Journal of Neurology|February 2, 2018
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathyJuliette Piard, George K Essien Umanah, Frederike L Harms, et al.
Pageof 15