Zobrazeno 1 - 10
of 203
pro vyhledávání: '"M. Sperber"'
Recent advances in genetics, molecular biology, diagnostic imaging and surgical techniques require a substantial understanding of prenatal development morphogenesis. The clinical significance of the normal mechanisms of embryogenesis, developmental f
Autor:
Eric W. Miller, Celeste M. Lamberson, Ratilal R. Akabari, Scott W. Riddell, Frank A. Middleton, Michel R. Nasr, Scott C. Smith, Steven M. Sperber
Publikováno v:
The Journal of Molecular Diagnostics : JMD
Following the outbreak and subsequent pandemic of coronavirus disease 2019 (COVID-19), clinical diagnostic laboratories worldwide sought accurate and reliable testing methodologies. However, many laboratories were and still are hindered by a number o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a033dcb91b5b0e8963190cef35ba182
https://doi.org/10.1016/j.jmoldx.2021.12.010
https://doi.org/10.1016/j.jmoldx.2021.12.010
Autor:
Claudia A. L. Ruivenkamp, Lewis Pang, Nienke P. Dosa, Gemma L. Carvill, Rolph Pfundt, Joseph Junewick, Geoffrey T. Swanson, Nicole de Leeuw, Xing-Chang Wei, Katrin Õunap, Cacha M.P.C.D. Peeters-Scholte, Jacob R. Stolz, Reelika Part, Ionella Rebane, Zornitza Stark, Karen J. Low, Kendall M. Foote, Edwin P. Kirk, Joanna Kennedy, Steven M. Sperber, Sebastian Lunke, Sander Pajusalu, R. Curtis Rogers, Robert Roger Lebel, Jessica M. Davis, Hermine E. Veenstra-Knol, Sanne W. ten Broeke, Raymond J. Louie, A. Micheil Innes, Boris Keren, Ai Sakonju, Daniela Q.C.M. Barge-Schaapveld, John Christodoulou, Paul R. Mark, John A. Lawson, Bregje W.M. van Bon, Laura Roht, Cyril Mignot, Sian Ellard
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 108, 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, ' Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders ', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709 . https://doi.org/10.1016/j.ajhg.2021.07.007
American Journal of Human Genetics, 108(9), 1692-1709. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1692-1709
American Journal of Human Genetics, 108, 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, ' Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders ', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709 . https://doi.org/10.1016/j.ajhg.2021.07.007
American Journal of Human Genetics, 108(9), 1692-1709. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1692-1709
Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding gene GRIK2 causes a nonsyndromic neurodevelopmental disorder (NDD) with intellectual disabi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b1bb904407e09cee9b444bcf7c262f
https://hdl.handle.net/11370/e571add2-0d7b-440f-8547-5b406f97bea0
https://hdl.handle.net/11370/e571add2-0d7b-440f-8547-5b406f97bea0
Autor:
Stephen B. Baker, Scott P. Bartlett, Stephen P. Beals, Andrea B. Burke, Catherine S. Chang, Jong-Woo Choi, Youna Kyong Choi, Andrew M. Christensen, Sydney R. Coleman, Haiyan Cui, Didem Dagdeviren, David J. Dunaway, Francesco M. Egro, Peter Llewelyn Evans, Matthew P. Fahrenkopf, Jordan D. Frey, Jaime Gateno, John A. Girotto, Bahman Guyuron, Randal D. Haworth, Darryl J. Hodgkinson, Ashley L. Howarth, Yu-Hui Huang, Rex W. Hung, Ronald Jacobson, Woo Shik Jeong, Daeseung Kim, Vikas S. Kotha, Anand R. Kumar, Janice S. Lee, Jamie P. Levine, Olivia C. Means, Gabriele C. Miotto, Richard Monahan, Foad Nahai, Manas Nigam, Athanasios Papaioannou, Frank A. Papay, Pravin K. Patel, Lacey R. Pflibsen, Navid Pourtaheri, Lee L.Q. Pu, Andrea Pusic, Neela Rao, David J. Reisberg, Johan P. Reyneke, Harvey M. Rosen, J. Peter Rubin, David B. Sarwer, Jonathan A. Schwitzer, Rosemary Seelaus, Pasha Shakoori, Frederick H. Silver, Geoffrey H. Sperber, Steven M. Sperber, Jacqueline C. Spitzer, Peter J. Taub, Dean M. Toriumi, Ali Totonchi, Fatma Betul Tuncer, Lara S. van de Lande, Richard J. Warren, Jeffrey Weinzweig, Andrew M. Wexler, Linton A. Whitaker, Erin M. Wolfe, S. Anthony Wolfe, James Xia, Michael J. Yaremchuk, Jason W. Yu, Linping Zhao
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e37fb055ab894864c2c2ea80a673b932
https://doi.org/10.1016/b978-0-323-48410-7.00007-1
https://doi.org/10.1016/b978-0-323-48410-7.00007-1
Autor:
Geoffrey H. Sperber, Steven M. Sperber
Publikováno v:
Aesthetic Surgery of the Facial Skeleton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::421dc835c2b5d4e43f7aee8279959c74
https://doi.org/10.1016/b978-0-323-48410-7.00024-1
https://doi.org/10.1016/b978-0-323-48410-7.00024-1
Publikováno v:
Notfall + Rettungsmedizin. 22:17-24
Die endotracheale Intubation gilt trotz Alternativen wie Larynxmaske oder Larynxtubus noch immer als Goldstandard in der Sicherung des Atemwegs. Da bei nicht korrekt durchgefuhrter Intubation schwere Komplikationen bis hin zum Tod des Patienten drohe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5567cc6e0d3d1008a8a1db5c565a622b
https://doi.org/10.1007/s10049-018-0445-4
https://doi.org/10.1007/s10049-018-0445-4
Publikováno v:
Patient preference and adherence
Christian M Sperber, Suren R Samarasinghe, Grace P Lomax Patient Connect Limited, Guildford,UK Background: The Medication Possession Ratio (MPR) is a ubiquitous and central measurement for adherence in the health care industry. However, attempts to s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6408954e2b43dca27723d80d0d557d5f
https://doi.org/10.2147/ppa.s136890
https://doi.org/10.2147/ppa.s136890
Publikováno v:
Journal of Bacteriology. 198:2074-2088
Many bacteria utilize actin-like proteins to direct peptidoglycan (PG) synthesis. MreB and MreB-like proteins are thought to act as scaffolds, guiding the localization and activity of key PG-synthesizing proteins during cell elongation. Despite their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5adc5ee524e04c31e47baa33031043c0
https://doi.org/10.1128/jb.00183-16
https://doi.org/10.1128/jb.00183-16
Autor:
Geoffrey H. Sperber, Steven M. Sperber
The third edition of Craniofacial Embryogenetics and Development is dedicated to increased understanding of normal and abnormal orofacial development by integrating embryological development with its underlying genetic information. Professor Emeritus
Autor:
Anthony M. Sperber, Jennifer K. Herman
Publikováno v:
Journal of bacteriology. 199(11)
More than 5 decades of work support the idea that cell envelope synthesis, including the inward growth of cell division, is tightly coordinated with DNA replication and protein synthesis through central metabolism. Remarkably, no unifying model exist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc444f0136a8daea3948106ed6a5efbc
https://pubmed.ncbi.nlm.nih.gov/28320879
https://pubmed.ncbi.nlm.nih.gov/28320879