Zobrazeno 1 - 10
of 64
pro vyhledávání: '"W. Rehder"'
Autor:
Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Priya S. Kishnani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified i
Externí odkaz:
https://doaj.org/article/679af5bc69674bcba68ce987b80d72dc
Autor:
Brooke A. Migliore, Linran Zhou, Martin Duparc, Veronica R. Robles, Catherine W. Rehder, Holly L. Peay, Katerina S. Kucera
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 12 (2022)
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder with a birth prevalence of 19.8:100,000 males worldwide. Elevated concentration of the muscle enzyme creatine kinase-MM (CK-MM) allows for presymptomatic screening of newborns using Dried
Externí odkaz:
https://doaj.org/article/35df2e0d5a154125820dd52ff3857963
Autor:
Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Lincoln Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, Lisa M. Gehtland
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 20 (2021)
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December
Externí odkaz:
https://doaj.org/article/ba63968da0e7435f8c7b06b3c82ea9f7
Autor:
Patrick R. Gonzales, Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, null on behalf of the ACMG Laboratory Quality Assurance Committee
Publikováno v:
Genetics in Medicine. 24:255-261
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0e9c7eb14eb13d283176826af2fdc19
https://doi.org/10.1016/j.gim.2021.10.004
https://doi.org/10.1016/j.gim.2021.10.004
Autor:
Suhrad G Banugaria, Sean N Prater, Trusha T Patel, Stephanie M Dearmey, Christie Milleson, Kathryn B Sheets, Deeksha S Bali, Catherine W Rehder, Julian A J Raiman, Raymond A Wang, Francois Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S Rosenberg, Priya S Kishnani
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67052 (2013)
Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death.
Externí odkaz:
https://doaj.org/article/18fa0e438966415a88a3734dd619fdd0
Publikováno v:
DMW - Deutsche Medizinische Wochenschrift. 106:135-140
Following carotid sinus stimulation a hyperactive reflex with ventricular asystole of more than 3 seconds was found in 9 out of 40 asymptomatic patients aged more than 60 years. Results varied considerably between different investigators and differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ff886c0cc154201a48fcf0dc18f300c
https://doi.org/10.1055/s-2008-1070272
https://doi.org/10.1055/s-2008-1070272
Autor:
Jürgen W. Rehder
Publikováno v:
Komplementäre und Integrative Medizin. 49:9-10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed61c61af4577b17b13bb5424c85d34d
https://doi.org/10.1016/j.kim.2008.07.014
https://doi.org/10.1016/j.kim.2008.07.014
Autor:
W. Rehder
Publikováno v:
Zeitschrift für Naturforschung A. 35:437-441
Necessary and sufficient conditions for commutativity of two projections in Hilbert space are given through properties of so-called conditional connectives which are derived from the conditional probability operator PQP. This approach unifies most of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2a36fb6cbbcecaa4ed6bd73b78353bb
https://doi.org/10.1515/zna-1980-0415
https://doi.org/10.1515/zna-1980-0415
Autor:
W. Rehder
Publikováno v:
Metrika. 23:1-6
Let ξ(t) be a random process with correlation functionB0, defining a norm ‖ ‖0, and letη0 (ξ) be the best linear estimate of some unknown value ξ of the process ξ(t). SupposeB0 is not known and a “pseudobest” estimateη1 (ξ) is obtained
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac220a3950938f932016fd3755bf62bb
https://doi.org/10.1007/bf01902844
https://doi.org/10.1007/bf01902844
Publikováno v:
Zeitschrift für Naturforschung B. 26:193-196
In contrary to catalytic hydrogenation of 1-hexene and 1-decene with RhH (CO) (ΡΦ3) 3 in benzene in toluene as a solvent the reaction rate r can be represented by the equation 1/r=K/k1·[H2] · [M]0 · [M]0· [Κa]0+Ka]o+1/k1 · [H2] · [Ka]0, yet,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb0f58dbb214e12564dc233bf3275ea5
https://doi.org/10.1515/znb-1971-0304
https://doi.org/10.1515/znb-1971-0304