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Emily K Mis

Showing results (21-30 of 26) with videos related to

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American Journal of Medical Genetics. Part A|January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresEmily K Mis, Annalisa G Sega, Rebecca H Signer, et al.
Journal of Medical Genetics|July 8, 2020
<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypesJonathan Marquez, Nina Mann, Kathya Arana, et al.
Frontiers in Genetics|December 3, 2024
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from MaliSalia Bamba, Lala Sidibé, Seybou H Diallo, et al.
Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
Genetics in Medicine Open|October 2, 2025
Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in MaliSalia Bamba, Lauren Jeffries, Salimata Diarra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
American Journal of Medical Genetics. Part A|January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresEmily K Mis, Annalisa G Sega, Rebecca H Signer, et al.
Journal of Medical Genetics|July 8, 2020
<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypesJonathan Marquez, Nina Mann, Kathya Arana, et al.
Frontiers in Genetics|December 3, 2024
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from MaliSalia Bamba, Lala Sidibé, Seybou H Diallo, et al.
Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
Genetics in Medicine Open|October 2, 2025
Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in MaliSalia Bamba, Lauren Jeffries, Salimata Diarra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Pageof 3