Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kumarie Latchman"'
Autor:
Stephanie Bivona, Mustafa Tekin, Guney Bademci, Carson Smith, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Stephan Zuchner
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100150- (2023)
Externí odkaz:
https://doaj.org/article/c8aa0841127942399e8f99339e00529f
Autor:
Guney Bademci, Stephanie Bivona, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Carson Smith, Stephan Zuchner, Mustafa Tekin
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100707- (2023)
Externí odkaz:
https://doaj.org/article/f83e52f4765d42f396ee5f4eeeb65a82
Publikováno v:
Tuesday, April 25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d76141dc57be28687329634e2109b1e1
https://doi.org/10.1212/wnl.0000000000203166
https://doi.org/10.1212/wnl.0000000000203166
Autor:
Deborah Barbouth, Kumarie Latchman, Mustafa Tekin, Stephanie Hacker, Jeanette Brown, Claire J. Sineni, Guney Bademci, Willa Thorson, Shengru Guo, Jingyu Huang, Lorrien Ragin-Dames
Publikováno v:
Journal of Inherited Metabolic Disease. 43:1199-1204
Galactosemia is a rare, treatable hereditary disorder of carbohydrate metabolism. We investigated the etiology of decreased GALT enzyme activity in a cohort of newborns referred by the Florida Newborn Screening Program with no detectable GALT variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625d4109446866aad1a01de11972be58
https://doi.org/10.1002/jimd.12293
https://doi.org/10.1002/jimd.12293
Publikováno v:
J Pediatr Genet
Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor, developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::430e4f03e9c2b4ee0a1287f8230f5487
https://doi.org/10.1055/s-0039-1697029
https://doi.org/10.1055/s-0039-1697029
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(3)
ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594277b0c3c6d7a2dee74f9edc4e883f
https://pubmed.ncbi.nlm.nih.gov/31833199
https://pubmed.ncbi.nlm.nih.gov/31833199
Autor:
Kumarie Latchman, Michael Saad-Naguib
Publikováno v:
Molecular Genetics and Metabolism. 132:S139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ede465bb59f01bb8aa393a283793cbca
https://doi.org/10.1016/s1096-7192(21)00300-0
https://doi.org/10.1016/s1096-7192(21)00300-0