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Gabrielle Kosobucki

Internal Medicine Residency · Novant Health New Hanover Regional Medical Center

Credentials: · ·

History

Internal Medicine
Novant Health New Hanover Regional Medical Center
2024–Present
Wake Forest Univ Sch of Med
2020–2024

Research

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
The American Journal of Human Genetics · 2016 · 148 citations
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology
PLoS Genetics · 2017 · 109 citations
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
Case report · Brain · 2019 · 62 citations

Anthony Schulien
4 papers
AT
Anel Tankovic
2 papers
HK
Hirofumi Kusumoto
2 papers
Annapurna Poduri
1 paper
CA
Christelle Moufawad El Achkar
1 paper
Elizabeth McCormick
1 paper
Eric Marsh
1 paper
Hakon Hakonarson
1 paper
JP
Joseph Pecha
1 paper
MF
Marni Falk
1 paper
Varun Kannan
1 paper · 1 as a resident
Xilma Ortiz-Gonzalez
1 paper