Results 231 to 240 of about 363,698 (299)

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Unlocking the full potential of nanopore sequencing: tips, tricks, and advanced data analysis techniques. [PDF]

Nucleic Acids Res
Meyer D, Goettsch W, Spangenberg J, Stieber B, Krautwurst S, Hölzer M, Brandt C, Linde J, Höner Zu Siederdissen C, Srivastava A, Zarkovic M, Wollny D, Marz M.   +12 more
europepmc   +1 more source

Shape Derivatives of the Eigenvalues of the De Rham Complex for Lipschitz Deformations and Variable Coefficients: Part I

Mathematical Methods in the Applied Sciences, EarlyView.
ABSTRACT We study eigenvalue problems for the de Rham complex on varying three‐dimensional domains. Our analysis includes the Helmholtz equation as well as the Maxwell system with mixed boundary conditions and non‐constant coefficients. We provide Hadamard‐type formulas for the shape derivatives under weak regularity assumptions on the domain and its ...
Pier Domenico Lamberti, Dirk Pauly, Michele Zaccaron   +2 more
wiley   +1 more source

Domain-agnostic weakly supervised surgical instrument segmentation. [PDF]

Sci Rep
Peter R, Pham DXV, Matten P, Wu E, Nienhaus J, Meissen F, Menten MJ, Tagliabue E, Mathis-Ullrich F.   +8 more
europepmc   +1 more source

Fat/Water Separation at 7 T Using a 3D Radial Sequence With Quasi‐Continuous Echo Times

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To achieve a reliable fat/water separation (FWS) at 7 T using a new 3D radial sequence and reconstruction workflow with quasi‐continuous TE sampling. Methods A 3D radial density‐adapted sequence with quasi‐continuous TE sampling was developed for a 7 T whole‐body MRI system.
Matthias Rohe, Katharina Tkotz, Armin M. Nagel, Stefan Sommer, Max Brockmüller, Florian Knoll, Michael Uder, Nico Egger, Frederik B. Laun, Tobias Wilferth   +9 more
wiley   +1 more source

User experience with two computerized cognitive intervention programs for people with mild cognitive impairment. [PDF]

BMC Geriatr
Scheuermann JS, Graessel E, Schmitt M, Scheerbaum P.   +3 more
europepmc   +1 more source

Chemical Shift Separated and Compensated Ultra‐Short Echo‐Time Imaging

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To develop a modified binomial excitation scheme for ultra‐short echo‐time (UTE) imaging that allows for the separation of water and fat signals and the correction of chemical shift artifacts. Methods Theoretical derivation and numerical Bloch simulations were performed for a modified water‐excitation binomial pulse scheme to calculate
Martin Krämer, Lumeng Cui, Jürgen R. Reichenbach, Stefan Sommer   +3 more
wiley   +1 more source

SwitchTFI: identifying transcription factors driving cell differentiation. [PDF]

Genome Biol
Martini P, Hartebrodt A, de Almeida GP, Hackstein CP, Zehn D, Blumenthal DB.   +5 more
europepmc   +1 more source

Improved Myocardial Sodium Quantification at 7 T Using Interleaved 23Na/1H pTx MRI With Motion and Anatomy‐Based B1 Correction

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To improve accuracy and repeatability of myocardial 23Na quantification in cardiac MRI at 7 T by combining retrospective respiratory and cardiac motion correction with a novel anatomy‐based B1 bias field correction. Methods In this study, a dual‐nuclear interleaved 23Na/1H MRI sequence at 7 T was applied.
Laurent Ruck, Nico Egger, Benedikt Zobler, Judith Schirmer, Sophia Nagelstraßer, Andreas Bitz, Tanja Platt, Simon Konstandin, Christoph Kopp, Michael Uder, Armin Michael Nagel   +10 more
wiley   +1 more source