Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Heidi Wallis"'
Autor:
Emily Groopman, Jenny Goldstein, Amanda Thomas-Wilson, Daniel Reich, Emily Kyle, Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang, Sarah Young, Simona Bianconi, Nicola Longo, Heidi Wallis, Saadet Mercimek-Andrews
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100879- (2024)
Externí odkaz:
https://doaj.org/article/4266eb2ef99245aba8c76ec7da1f00ca
Autor:
Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, Rong Mao
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100005- (2023)
Externí odkaz:
https://doaj.org/article/721b83fb247a45fcbe213934bf7cb395
Autor:
David Jones, Jianyin Shao, Heidi Wallis, Cody Johansen, Kim Hart, Marzia Pasquali, Ramkiran Gouripeddi, Andreas Rohrwasser
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 70 (2021)
As newborn screening programs transition from paper-based data exchange toward automated, electronic methods, significant data exchange challenges must be overcome. This article outlines a data model that maps newborn screening data elements associat
Externí odkaz:
https://doaj.org/article/64845c80efb54f23a805be33121e9a44
Autor:
Patricia Galvin-Parton, Andreas Rohrwasser, Nicola Longo, Mark A. Morrissey, Kim Hart, Jianyin Shao, Michele Caggana, Taylor Anderson, Heidi Wallis, Matthew Wojcik, Nicolas Szabo-Fresnais, Heather Golsan, Denise M. Kay, Xiaoli Wang, Marzia Pasquali
Publikováno v:
Molecular Genetics and Metabolism. 134:60-64
Introduction Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited metabolic disorder that impairs the synthesis of creatine (CRE). Lack of CRE in the brain can cause intellectual disability, autistic-like behavior, seizures, and movem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ee4faf7c72effc2ddb20aa0bacbdfd0
https://doi.org/10.1016/j.ymgme.2021.07.012
https://doi.org/10.1016/j.ymgme.2021.07.012
Autor:
Heidi Wallis, Jianyin Shao, Kim Hart, Andreas Rohrwasser, Ramkiran Gouripeddi, Marzia Pasquali, Cody Johansen, David B. Jones
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 70, p 70 (2021)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
As newborn screening programs transition from paper-based data exchange toward automated, electronic methods, significant data exchange challenges must be overcome. This article outlines a data model that maps newborn screening data elements associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597352aff634def495c3ab8207b3610b
https://doi.org/10.3390/ijns7040070
https://doi.org/10.3390/ijns7040070