Zobrazeno 1 - 10
of 292
pro vyhledávání: '"Rohrwasser A"'
Autor:
Kristen N. Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J. Butterfield
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 54 (2024)
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting i
Externí odkaz:
https://doaj.org/article/7efbce1f4e0e4fc3bc7fb7f10d970352
Autor:
Lalouel Jean-Marc, Weiss Robert B, Blazer-Yost Bonnie L, Garrone Nicholas F, Rohrwasser Andreas
Publikováno v:
BMC Cell Biology, Vol 10, Iss 1, p 26 (2009)
Abstract Background Ubiquitination serves multiple cellular functions, including proteasomal degradation and the control of stability, function, and intracellular localization of a wide variety of proteins. NEDD4L is a member of the HECT class of E3
Externí odkaz:
https://doaj.org/article/2e85c5dfeeda49c29c3c4bf50adbbc6b
Autor:
Pooja Gupta, Stefan Liao, Maleea Ezekiel, Nicolle Novak, Alessandro Rossi, Nathan LaCross, Kelly Oakeson, Andreas Rohrwasser
Publikováno v:
Microbiology Spectrum, Vol 11, Iss 3 (2023)
ABSTRACT Wastewater-based epidemiology has emerged as a powerful public health tool to trace new outbreaks, detect trends in infection, and provide an early warning of COVID-19 community spread. Here, we investigated the spread of SARS-CoV-2 infectio
Externí odkaz:
https://doaj.org/article/b760b69e985f46b898aef6d5d7a9363e
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-12 (2022)
Abstract Background & Objectives This study aims to explore and elucidate parents’ experience of newborn screening [NBS], with the overarching goal of identifying desiderata for the development of informatics-based educational and health management
Externí odkaz:
https://doaj.org/article/82d60e9feda34d16972012b36e85056e
Autor:
Wong, Kristen N., McIntyre, Melissa, Cook, Sabina, Hart, Kim, Wilson, Amelia, Moldt, Sarah, Rohrwasser, Andreas, Butterfield, Russell J.
Publikováno v:
International Journal of Neonatal Screening (IJNS); Sep2024, Vol. 10 Issue 3, p54, 10p
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100421- (2023)
Externí odkaz:
https://doaj.org/article/2939bd0942e34612b7926280bae63b8e
Autor:
Rohrwasser, Michael, author
Publikováno v:
Schuld und Sühne? 1: Kriegserlebnis und Kriegsdeutung in deutschen Medien der Nachkriegszeit (1945-1961) Internationale Konferenz vom 01.-04.09.1999 in Berlin. 50.1:139-153
Autor:
Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang, Dietrich Matern
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 62 (2022)
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, t
Externí odkaz:
https://doaj.org/article/41ab3a50602847f5af0ca36577a457d0
Autor:
Jones, David E., Hart, Kim, Shapira, Stuart K., Murray, Mary, Atkinson-Dunn, Robyn, Rohrwasser, Andreas
Publikováno v:
Morbidity and Mortality Weekly Report, 2018 Jul . 67(28), 782-785.
Externí odkaz:
https://www.jstor.org/stable/26491821
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