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Emily Bonkowski

Showing results (1-10 of 7) with videos related to

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Seizure|October 11, 2025
Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlationJuleLayne Curry, Emily Bonkowski, Heather Mefford, et al.
Therapeutic Advances in Rare Disease|October 11, 2024
A roadmap to cure CHD2-related disordersStephanie Prince, Emily Bonkowski, Christopher McGraw, et al.
JCO Precision Oncology|December 3, 2024
Parents' Experiences With and Preferences for Receiving Information About Tumor Genomic Sequencing: Findings From a Qualitative Study and Implications for PracticeBrittany L Greene, Krysta S Barton, Emily Bonkowski, et al.
American Journal of Human Genetics|June 4, 2016
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9LDong-Hui Chen, Jennifer E Below, Akiko Shimamura, et al.
Human Mutation|September 13, 2013
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.
Human Molecular Genetics|April 19, 2013
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)Olena Korvatska, Nicholas S Strand, Jason D Berndt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Seizure|October 11, 2025
Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlationJuleLayne Curry, Emily Bonkowski, Heather Mefford, et al.
Therapeutic Advances in Rare Disease|October 11, 2024
A roadmap to cure CHD2-related disordersStephanie Prince, Emily Bonkowski, Christopher McGraw, et al.
JCO Precision Oncology|December 3, 2024
Parents' Experiences With and Preferences for Receiving Information About Tumor Genomic Sequencing: Findings From a Qualitative Study and Implications for PracticeBrittany L Greene, Krysta S Barton, Emily Bonkowski, et al.
American Journal of Human Genetics|June 4, 2016
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9LDong-Hui Chen, Jennifer E Below, Akiko Shimamura, et al.
Human Mutation|September 13, 2013
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.
Human Molecular Genetics|April 19, 2013
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)Olena Korvatska, Nicholas S Strand, Jason D Berndt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.
Pageof 1