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American Journal of Medical Genetics. Part A
|
January 13, 2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizures
Emily 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 phenotypes
Jonathan 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 Mali
Salia 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 paraplegia
Salimata 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 Mali
Salia 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 infections
Lauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
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of 3
Search research articles
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Showing results (21-30 of 26) with videos related to
Sort By:
Page
of 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 seizures
Emily 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 phenotypes
Jonathan 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 Mali
Salia 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 paraplegia
Salimata 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 Mali
Salia 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 infections
Lauren Jeffries, Emily K Mis, Kirsty McWalter, et al.
Page
of 3