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New tool points to mutation behind Delta's infectiousness
New tool points to mutation behind Delta's infectiousness
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New tool points to mutation behind Delta's infectiousness

Wadman, Meredith

Science (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 Science

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2
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy
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F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy

Peikert, 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, Adrian

Journal of neurology, neurosurgery and psychiatry, 2021-09, Vol.92 (Suppl 1), p.A30-A30 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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3
S03.2 What is the role of quinolone resistance testing in the management of M. genitalium?
S03.2 What is the role of quinolone resistance testing in the management of M. genitalium?
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S03.2 What is the role of quinolone resistance testing in the management of M. genitalium?

Murray, G

Sexually transmitted infections, 2021-07, Vol.97 (Suppl 1), p.A7-A8 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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4
P052 Performance of Three Commercial Molecular Diagnostic Assays for the Simultaneous Detection of Mycoplasma genitalium and Macrolide Resistance
P052 Performance of Three Commercial Molecular Diagnostic Assays for the Simultaneous Detection of Mycoplasma genitalium and Macrolide Resistance
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P052 Performance of Three Commercial Molecular Diagnostic Assays for the Simultaneous Detection of Mycoplasma genitalium and Macrolide Resistance

Le Roy, C ; Bébéar, C ; Pereyre, S

Sexually transmitted infections, 2021-07, Vol.97 (Suppl 1), p.A74-A74 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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5
223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk
223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk
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223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk

Vivekanandam, Vinojini ; Savvitis, Konstantinos ; Pattni, Jatin ; Fialho, Doreen ; Hanna, Michael G ; Matthews, Emma

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e56-e56 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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6
15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
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15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Chelban, 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, Henry

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e4-e5 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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7
272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
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272 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder

Chelban, Viorica ; Wilson, Matthew ; Zanetti, Natalia ; Zamba-Papanicolaou, Eleni ; Conte, Maria ; Cordivari, Carla ; Mills, Philippa ; Wood, Nicholas ; Clayton, Peter ; Houlden, Henry

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.e64-e64 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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8
EP15.02: Prenatal identification of novel compound heterozygous mutations associated with Ellis‐van Creveld syndrome: a case report
EP15.02: Prenatal identification of novel compound heterozygous mutations associated with Ellis‐van Creveld syndrome: a case report
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EP15.02: Prenatal identification of novel compound heterozygous mutations associated with Ellis‐van Creveld syndrome: a case report

Vo, S.T. ; Giang, H. ; Nguyen, N.H. ; Tran, T.N.

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.316-316 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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9
GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations
GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations
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GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations

Wu, Jie ; Ohno, Seiko ; Ding, Weiguang ; Dong, Chao ; Song, Lingling ; Matsuura, Hiroshi ; Horie, Minoru

Journal of the American College of Cardiology, 2018-10, Vol.72 (16), p.C170-C170 [Periódico revisado por pares]

New York: Elsevier Inc

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10
296 Longitudinal measurement of serum NFL in early familial AD
296 Longitudinal measurement of serum NFL in early familial AD
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296 Longitudinal measurement of serum NFL in early familial AD

Philip, Weston ; Teresa, Poole ; Natalie, Ryan ; Yuying, Liang ; Simon, Mead ; Kaj, Blennow ; Martin, Rossor ; Jonathan, Schott ; Henrik, Zetterberg ; Nick, Fox

Journal of neurology, neurosurgery and psychiatry, 2018-10, Vol.89 (10), p.A47-A47 [Periódico revisado por pares]

London: BMJ Publishing Group LTD

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