Zobrazeno 1 - 10
of 1 154
pro vyhledávání: '"S, Rosenblatt"'
Publikováno v:
npj Quantum Information, Vol 8, Iss 1, Pp 1-7 (2022)
Abstract Superconducting qubits are a leading candidate for quantum computing but display temporal fluctuations in their energy relaxation times T 1. This introduces instabilities in multi-qubit device performance. Furthermore, autocorrelation in the
Externí odkaz:
https://doaj.org/article/012c1adc112e4f1c94034f341c1c5a93
Autor:
Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated m
Externí odkaz:
https://doaj.org/article/18e20d90d2e9439192ddff6d1fb4cef0
Autor:
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation
Externí odkaz:
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651
Autor:
C. D. Greco, C. C. Petro, J. D. Thomas, K. Montelione, C. Tu, A. Fafaj, S. Zolin, D. Krpata, S. Rosenblatt, M. Rosen, L. Beffa, A. Prabhu
Publikováno v:
Hernia. 26:1591-1598
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb2b63aa696d03608915c2c0d0ab0d57
https://doi.org/10.1007/s10029-022-02687-7
https://doi.org/10.1007/s10029-022-02687-7
Publikováno v:
Journal of Taibah University Medical Sciences, Vol 12, Iss 3, Pp 194-198 (2017)
في السنوات العديدة الماضية، شرعت الاتحادات للأمراض النادرة في استهداف اكتشاف الجينات المسببة للأمراض في الأمراض المندلية، باستخدام أسا
Externí odkaz:
https://doaj.org/article/a23427b9af504658be515e04718d4776
Autor:
Gabriela de Carvalho Nunes, Karl Grenier, Chelsea Maedler Kron, Thomas Kitzler, Janine El Helou, David S. Rosenblatt, François Olivier
Publikováno v:
Neuromuscular Disorders. 32:512-515
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9ea2eeb9a3f85a51cf02e1be8fd52e4
https://doi.org/10.1016/j.nmd.2022.04.010
https://doi.org/10.1016/j.nmd.2022.04.010
Akademický článek
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Publikováno v:
Clinical Practice and Cases in Emergency Medicine. 6:1-7
Introduction: A 57-year-old, right-hand dominant female presented to the emergency department striking herself with her left hand. Case Presentation: The astute medical staff looked beyond a behavioral health etiology. A detailed history, physical ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fb51931d0e18c59979970771e5f2720
https://doi.org/10.5811/cpcem.2022.2.55676
https://doi.org/10.5811/cpcem.2022.2.55676
Autor:
Jean-Louis Guéant, Youssef Siblini, Céline Chéry, Guillaume Schmitt, Rosa-Maria Guéant-Rodriguez, David Coelho, David Watkins, David S. Rosenblatt, Abderrahim Oussalah
Publikováno v:
Human Genetics. 141:1309-1325
Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA methylation, in which epigenome alterations are directly involved in the underlying molecular mechanisms of the disease. This review focuses on the epigenetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be63af2af9b40b746ab1c272782cf0ba
https://doi.org/10.1007/s00439-021-02414-9
https://doi.org/10.1007/s00439-021-02414-9
Autor:
Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel‐Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L. Browne, James L. Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P. Venditti, Kyriakie Sarafoglou, David S. Rosenblatt, Denise M. Kay, Lawrence C. Brody
Publikováno v:
Am J Med Genet A
The biological and clinical significance of the p.E88del variant in the transcobalamin receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign, pathogenic, and of uncertain significance. To determine functional consequence a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30bed215cff61b933b6a2cd3e357f290
https://doi.org/10.1002/ajmg.a.62627
https://doi.org/10.1002/ajmg.a.62627