Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Benita Grossmann"'
1
Prevalence of autoimmune disease in women with premature ovarian failure
Autor: Ann-Christin Pecher, Melanie Henes, Benita Grossmann, Katharina Rall, Stephanie Hübner, Sebastian Jonas Saur, Joerg Henes
Publikováno v: The European Journal of Contraception & Reproductive Health Care. 25:72-75
Objective: The aim of the study was to investigate the relationship between premature ovarian failure and autoimmune disease.Methods: This interdisciplinary prospective study included 52 consecutiv...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90dfc30828c48f897da439b9a15f5f11
https://doi.org/10.1080/13625187.2019.1702638
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2
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Autor: Serdal Güngör, Benita Grossmann, Bethany Y. Norton, Zubair M. Ahmed, Wendy K. Chung, John Neidhardt, Julie S. Cohen, Elodie Richard, Yoel Hirsch, Jiankang Li, Jozef Gecz, Ralf A. Husain, Saima Riazuddin, Maria J. Guillen Sacoto, Claudia Steen, Andreas Ziegler, G. Christoph Korenke, Dominic Lenz, Mahim Jain, Urania Kotzaeridou, Henry Houlden, Theresa Brunet, Yavuz Oktay, Semra Hiz, Patricia Cornejo, Sheetal Shetty, Alastair H. MacLennan, Nazira Zharkinbekova, Bader Alhaddad, Dani L. Webber, Mary Alice Abbott, Hanns Lochmüller, Rauan Kaiyrzhanov, Melissa Yelton, Cecilia Mancini, Hakon Hakonarson, Amy Crunk, Simona Amenta, Yiran Guo, Jan Kaslin, Clare L. van Eyk, Richard Webster, Arianna Tucci, Alex M. Pagnozzi, Robert B. Hufnagel, Kirsty McWalter, Sandra M. Nordlie, Kaya Bilguvar, Pasquale Striano, Matias Wagner, Florian Kreuder, Lisa Worgan, Ashley P.L. Marsh, Anna Chassevent, Warren A. Marks, James Liu, Brandon S. Guida, Maria Margherita Mancardi, Kelly Harper, Lance H. Rodan, Rhonda E. Schnur, Dianela Judith Claps Sepulveda, Tzvi Weiden, Michele Pinelli, Marion Rapp, Helen Magee, Jesia G. Berry, Aboulfazl Rad, Michael C. Kruer, Mark A. Corbett, Rita Horvath, Constance Smith-Hicks, Joseph Ekstein, Marta Owczarek-Lipska, Somayeh Bakhtiari, Heinrich Sticht, Thomas Meitinger, Anne M. Comi, Alyssa Blesson, Iris Marquardt, Francesca Clementina Radio, Sergio Padilla-Lopez, Giuseppe Marangi, Christine Makowski, Mona Grimmel, Marco Tartaglia, Sheng Chih Jin, Federico Zara, Andreas Hahn, Shrikant Mane, Michael C Fahey, Marcella Zollino, Barbara Vona, Peter D. Turnpenny, Manuela Morleo, Ute Grasshoff, Amber Begtrup, Richard E. Person, Annalaura Torella, Alexander Münchau, Vincenzo Nigro, Reza Maroofian, John Christodoulou, Tobias B. Haack, Vincenzo Salpietro
Publikováno v: Am. J. Hum. Genet. 108, 2006-2016 (2021)
Am J Hum Genet
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1887f7ac3875dcbc64050199115f63ee
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63291
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3
Clinical outcome and paravalvular leakage of the new balloon-expandable Edwards Sapien 3 valve in comparison to its predecessor model (Edwards Sapien XT) in patients undergoing transfemoral aortic valve replacement
Autor: Michael Haap, Suzanne Fateh-Moghadam, Michal Droppa, Benita Grossmann, Tobias Geisler, M Steeg, Meinrad Gawaz, Wolfgang Bocksch, Rezo Jorbenadze
Publikováno v: Catheterization and Cardiovascular Interventions. 88:466-475
Objectives The aim of this study was to compare the 30-day procedural, clinical and echocardiographic outcome of the new balloon-expandable Edwards Sapien 3 (ES3) valve with the Edwards Sapien XT (ESXT). Background: Post-implant paravalvular leaks (P
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::988c194d5ff54d5cea8d4078edbebc3e
https://doi.org/10.1002/ccd.26562
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5
Clinical outcome and paravalvular leakage of the new balloon-expandable Edwards Sapien 3 valve in comparison to its predecessor model (Edwards Sapien XT) in patients undergoing transfemoral aortic valve replacement
Autor: Wolfgang, Bocksch, Benita, Grossmann, Tobias, Geisler, Martin, Steeg, Michal, Droppa, Rezo, Jorbenadze, Michael, Haap, Meinrad, Gawaz, Suzanne, Fateh-Moghadam
Publikováno v: Catheterization and cardiovascular interventions : official journal of the Society for Cardiac AngiographyInterventions. 88(3)
The aim of this study was to compare the 30-day procedural, clinical and echocardiographic outcome of the new balloon-expandable Edwards Sapien 3 (ES3) valve with the Edwards Sapien XT (ESXT).Post-implant paravalvular leaks (PVL) after transfemoral a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8f88418f551280265109d39fe3deb90a
https://pubmed.ncbi.nlm.nih.gov/27619748
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Plný text Recenzováno Digitální knihovna AV ČR
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