Zobrazeno 1 - 10 of 41 pro vyhledávání: '"W Epping"'
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Akademický článek
Resolving mechanisms of immune‐mediated disease in primary CD4 T cells
Autor: Christophe Bourges, Abigail F Groff, Oliver S Burren, Chiara Gerhardinger, Kaia Mattioli, Anna Hutchinson, Theodore Hu, Tanmay Anand, Madeline W Epping, Chris Wallace, Kenneth GC Smith, John L Rinn, James C Lee
Publikováno v: EMBO Molecular Medicine, Vol 12, Iss 5, Pp 1-17 (2020)
Abstract Deriving mechanisms of immune‐mediated disease from GWAS data remains a formidable challenge, with attempts to identify causal variants being frequently hampered by strong linkage disequilibrium. To determine whether causal variants could
Externí odkaz: https://doaj.org/article/6f6d2d05ba2f4f178954073cc994019a
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2
Resolving mechanisms of immune‐mediated disease in primary CD 4 T cells
Autor: Christophe Bourges, James Lee, Abigail F. Groff, Chris Wallace, Tanmay Anand, Chiara Gerhardinger, Oliver S. Burren, Madeline W Epping, Kenneth G. C. Smith, Anna Hutchinson, Theodore Hu, John L. Rinn, Kaia Mattioli
Publikováno v: EMBO Molecular Medicine, Vol 12, Iss 5, Pp n/a-n/a (2020)
EMBO Molecular Medicine
Deriving mechanisms of immune‐mediated disease from GWAS data remains a formidable challenge, with attempts to identify causal variants being frequently hampered by strong linkage disequilibrium. To determine whether causal variants could be identi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eedf9ad4d67e11cb433c3eac43f0b756
https://doi.org/10.15252/emmm.202012112
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3
Resolving mechanisms of immune-mediated disease in primary CD4 T cells
Autor: Chris Wallace, Kaia Mattioli, Madeline W Epping, Kenneth G. C. Smith, Theodore Hu, John L. Rinn, Anna Hutchinson, James Lee, Christophe Bourges, Chiara Gerhardinger, Tanmay Anand, Abigail F. Groff, Oliver S. Burren
Deriving mechanisms of immune-mediated disease from GWAS data remains a formidable challenge, with attempts to identify causal variants being frequently hampered by strong linkage disequilibrium. To determine whether causal variants could be identifi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c19a0e72f8307e461511e9fe142465d
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4
Facies Classification: Combining Domain Knowledge with Machine Learning Solutions
Autor: H. Williams, S. Hageraats-Ponomareva, T. Krasznavolgyi, W. Epping, R. Lamens, S. Davey, J. Przybysz-Jarnut, R. Newport, E. Link
Publikováno v: First EAGE Digitalization Conference and Exhibition.
Summary Automated facies identification workflows which use Machine Learning (ML) are publicly available but perform sub-optimally (accuracy in the order of 60%) due to a lack of integration with geological domain knowledge. Existing tools consider w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::45d45d72db79b2f4cf4215b72bf570af
https://doi.org/10.3997/2214-4609.202032046
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Resolving Molecular Mechanisms of Autoimmune Disease In Primary CD4 T Cells
Autor: Kenneth G. C. Smith, Abigail F. Groff, Chiara Gerhardinger, Tanmay Anand, James Lee, Christophe Bourges, Oliver S. Burren, Theodore Hu, John L. Rinn, Maddie W. Epping, Kaia Mattioli
Publikováno v: SSRN Electronic Journal.
Numerous genomic loci have been implicated in autoimmune disorders, but attempts to identify causal variants, and thereby disease mechanisms, have been hampered by strong linkage disequilibrium; leaving most loci unresolved and the potential of GWAS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f8ab6695490a3e8b941d72bf4b736eca
https://doi.org/10.2139/ssrn.3443596
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A Limited Repertoire of Mutations of the Luteinizing Hormone (LH) Receptor Gene in Familial and Sporadic Patients with Male LH-Independent Precocious Puberty1
Autor: Giuseppe Saggese, M.M.M. van Reen, H.A. Delemarre-Van de Waal, J. M. H. Buckler, A. P. N. Themmen, Hannie Kremer, W. Epping, H.G. Brunner, M. Pombo-Arias, George Moll, Stenvert L. S. Drop, John S. Parks, M. Jansen, Miriam Verhoef-Post, J.M. Wit, F. De Luca, H. A. Latif, B.J. Otten, John W.M. Martens, Edwin C. M. Mariman, N. Potau
Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 84:1136-1140
Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative family history. A total of 7 different mutations (all previously reported) were detected in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f2bd8db70a38d164714758a0e02518bc
https://doi.org/10.1210/jcem.84.3.5515
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357. A Mouse Model of Cobalamin A (cblA) Class Isolated Methymalonic Academy (MMA) Provides Unique Platform for Testing Gene and Cell Therapies
Autor: Victoria Hoffmann, Madeline W. Epping, Irini Manoli, Pat Zerfas, Cindy Wang, Chuck Venditti, Lingli Li, Gene Elliott
Publikováno v: Molecular Therapy. 24:S143
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. Most affected individuals display severe multisystemic disease with episodes of metabolic instability, chronic renal disease,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4d4c2d525b4bc5f53fdb0844a0ed6600
https://doi.org/10.1016/s1525-0016(16)33166-5
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A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty
Autor: W. Epping, Robert Kraaij, A. P. N. Themmen, H. G. Brunner, J. A. Grootegoed, M. Post, E. Milgrom, H. Kremer
Publikováno v: Journal of Clinical Endocrinology and Metabolism, 80, 11, pp. 3168-3172
Journal of Clinical Endocrinology and Metabolism, 80, 3168-3172
Patients with familial male-limited precocious puberty present with early onset of puberty. Several missense mutations in the LH receptor gene that cause amino acid substitutions in the sixth transmembrane segment of the receptor protein have been sh
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2394ba6de7eb1e4524bec76a9b13e50
https://hdl.handle.net/2066/21694
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10
[Late results following endoprosthetic lunate bone replacement]
Autor: W, Epping, H J, Stammer
Publikováno v: Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V.... 22(4)
Long-term results of silastic lunate spacer implantation are reported especially concerning late complications in the form of reactive synovitis and intraosseous cysts. As result one case of silicon cyst and no silicon synovitis was found.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6f607a5db255a5070edb016e32ac36c9
https://pubmed.ncbi.nlm.nih.gov/2391035
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