Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Abbey Scott"'
Autor:
Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Margaret Adam, Ian Glass, Tara Wenger
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101090- (2024)
Externí odkaz:
https://doaj.org/article/ce1045658d2b423083272ba7ecf00c84
Autor:
Tara Wenger, Alexandra Keefe, Lukas Kruidenier, Megan Sikes, Abbey Scott, Joon-Ho Yu, Kate MacDuffie, Kailyn Anderson, Olivia Sommers, Heidi Gildersleeve, Kati Buckingham, Jessica Chong, Katrina Dipple, David Veenstra, Dan Doherty, Daniel Miller, Deborah Copenheaver, Jane Juusola, Amy Snook, Chayna Davis, Kirsty McWalter, Paul Kruszka, Michael Bamshad
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101091- (2024)
Externí odkaz:
https://doaj.org/article/5b3d3c7d724a4815ae5e3718a3d5d1fe
Autor:
Katrina Dipple, Daniel Doherty, Kailyn Anderson, Olivia Sommers, Tara Wenger, Kate MacDuffie, Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jamie Love-Nichols, Heidi Gildersleeve, Chayna Davis, Kati Buckingham, Jessica Chong, David Veenstra, Danny Miller, Deborah Copenheaver, Jane Juusola, Kyle Retterer, Kirsty McWalter, Paul Kruszka, Joon-Ho Yu, Michael Bamshad
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101111- (2024)
Externí odkaz:
https://doaj.org/article/08838cdb18824bf08898bac6830472ef
Autor:
Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Margaret Adam, Ian Glass, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Alexandra Keefe, Tara Wenger
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101386- (2024)
Externí odkaz:
https://doaj.org/article/7472b8aa0b3645b79bb7072c118de9bd
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101808- (2024)
Externí odkaz:
https://doaj.org/article/6ea36f113f9c459ba646621150c32555
Autor:
Alexandra Keefe, Tara Wenger, Joon-Ho Yu, Megan Sikes, Luke Kruidenier, Abbey Scott, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, David Veenstra, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, Danny Miller, Katrina Dipple, Kyle Brothers, Michael Bamshad
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100236- (2023)
Externí odkaz:
https://doaj.org/article/7928f999bf9c4dc587add75dcf74e0aa
Autor:
Tara Wenger, Alexandra Keefe, Megan Sikes, Luke Kruidenier, Joon-Ho Yu, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Abbey Scott, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, David Veenstra, Danny Miller, Katrina Dipple, Michael Bamshad
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100450- (2023)
Externí odkaz:
https://doaj.org/article/2787b532517345a7bc4396185c6d8399
Autor:
Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100072- (2022)
Summary: We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and si
Externí odkaz:
https://doaj.org/article/b7eeb57bf1484bb7b4de6d3ef729ce71
Publikováno v:
Genetics in Medicine. 24:S324-S325
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97c4c23b465e3d27bbbaf422b61fdcf1
https://doi.org/10.1016/j.gim.2022.01.541
https://doi.org/10.1016/j.gim.2022.01.541
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