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Izabela Karbassi

Showing results (1-10 of 8) with videos related to

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Congestive Heart Failure (Greenwich, Conn.)|May 17, 2012
Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9Teresa M Lee, Mathew S Maurer, Izabela Karbassi, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathyChristina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, et al.
Human Mutation|December 14, 2011
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.
Human Mutation|October 16, 2015
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian DisordersIzabela Karbassi, Glenn A Maston, Angela Love, et al.
Human Mutation|September 17, 2016
BRCA Share: A Collection of Clinical BRCA Gene VariantsChristophe Béroud, Stanley I Letovsky, Corey D Braastad, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Congestive Heart Failure (Greenwich, Conn.)|May 17, 2012
Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9Teresa M Lee, Mathew S Maurer, Izabela Karbassi, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Human Mutation|November 27, 2021
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsDianalee McKnight, Lora Bean, Izabela Karbassi, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathyChristina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, et al.
Human Mutation|December 14, 2011
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.
Human Mutation|October 16, 2015
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian DisordersIzabela Karbassi, Glenn A Maston, Angela Love, et al.
Human Mutation|September 17, 2016
BRCA Share: A Collection of Clinical BRCA Gene VariantsChristophe Béroud, Stanley I Letovsky, Corey D Braastad, et al.
Pageof 1