Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Urbach Wiethe Disease: uncovering the role of an ECM1 mutation in BBB dysfunctionBrennan, Declan ; Greene, Chris ; Togher Zara ; Hutchinson, Siobhan ; Doherty, Colin ; Campbell, MatthewJournal of neurology, neurosurgery and psychiatry, 2023-11, Vol.94 (Suppl 1), p.A15-A15 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
|
2 |
Material Type: Artigo
|
New tool points to mutation behind Delta's infectiousnessWadman, MeredithScience (American Association for the Advancement of Science), 2021-11, Vol.374 (6569), p.800-801 [Periódico revisado por pares]United States: The American Association for the Advancement of ScienceTexto completo disponível |
|
3 |
Material Type: Artigo
|
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopyPeikert, Kevin ; Schlotter-Weigel, Beate ; Montagnese, Federica ; Reilich, Peter ; Saft, Carsten ; Marxreiter, Franz ; Kohl, Zacharias ; Evers, Stefan ; Kalckreuth, Wolfgang von ; Buhmann, Carsten ; Mayer, Beate ; Walther, Ernst ; Orth, Armin ; Hoenig, Manfred ; Nedeltchev, Krassen ; Löscher, Wolfgang N ; Jung, Hans H ; Mattle-Greminger, Maja ; Frey, Beat M ; Hermann, Andreas ; Danek, AdrianJournal of neurology, neurosurgery and psychiatry, 2021-09, Vol.92 (Suppl 1), p.A30-A30 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
|
4 |
Material Type: Artigo
|
A mutation breaks its silence on mutant KRASBaek, Amy EScience signaling, 2022-03, Vol.15 (724), p.eabp8972-eabp8972 [Periódico revisado por pares]United States: The American Association for the Advancement of ScienceTexto completo disponível |
|
5 |
Material Type: Artigo
|
A novel A allele with c.499G>A mutation identified in a Chinese individualHan, Bin ; Liu, Li ; Feng, Zhihui ; Bu, XiangmaoTransfusion (Philadelphia, Pa.), 2020-06, Vol.60 (6), p.E15-E16 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
|
6 |
Material Type: Artigo
|
272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorderChelban, Viorica ; Wilson, Matthew ; Zanetti, Natalia ; Zamba-Papanicolaou, Eleni ; Conte, Maria ; Cordivari, Carla ; Mills, Philippa ; Wood, Nicholas ; Clayton, Peter ; Houlden, HenryJournal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e64-e64 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
|
7 |
Material Type: Artigo
|
223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac riskVivekanandam, Vinojini ; Savvitis, Konstantinos ; Pattni, Jatin ; Fialho, Doreen ; Hanna, Michael G ; Matthews, EmmaJournal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e56-e56 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
|
8 |
Material Type: Artigo
|
15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorderChelban, Viorica ; Wilson, Matthew P ; Chardon, Jodi Warman ; Vandrovcova, Jana ; Natalia Zanetti, M ; Zamba-Papanicolaou, Eleni ; Efthymiou, Stephanie ; Pope, Simon ; Conte, Maria R ; Abis, Giancarlo ; Liu, Yo-Tsen ; Tribollet, Eloise ; Haridy, Nourelhoda A ; Botía, Juan A ; Ryten, Mina ; Nicolaou, Paschalis ; Minaidou, Anna ; Christodoulou, Kyproula ; Kernohan, Kristin D ; Eaton, Alison ; Osmond, Matthew ; Ito, Yoko ; Bourque, Pierre ; Jepson, James EC ; Bello, Oscar ; Bremner, Fion ; Cordivari, Carla ; Reilly, Mary M ; Foiani, Martha ; Heslegrave, Amanda ; Zetterberg, Henrik ; Heales, Simon JR ; Wood, Nicholas W ; Rothman, James E ; Boycott, Kym M ; Mills, Philippa B ; Clayton, Peter T ; Houlden, HenryJournal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e4-e5 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
|
9 |
Material Type: Artigo
|
AIR TRAVELLER YIELDS A NEW VARIANT BRISTLING WITH MUTATIONSNature (London), 2021-04, Vol.592 (7854), p.331-331 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
|
10 |
Material Type: Artigo
|
Author Correction: Parent-of-origin-specific signatures of de novo mutationsGoldmann, Jakob M ; Wong, Wendy S W ; Pinelli, Michele ; Farrah, Terry ; Bodian, Dale ; Stittrich, Anna B ; Glusman, Gustavo ; Vissers, Lisenka E L M ; Hoischen, Alexander ; Roach, Jared C ; Vockley, Joseph G ; Veltman, Joris A ; Solomon, Benjamin D ; Gilissen, Christian ; Niederhuber, John ENature genetics, 2018-11, Vol.50 (11), p.1615-1615 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |