Results 151 to 160 of about 127,476 (326)

Compound Heterozygous Structural Variants in Cases with Unsolved PRKN‐Associated Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Biallelic mutations in the PRKN gene are a common cause of early‐onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.
Agata Fant, Sara Trova, Edoardo Monfrini, Gaia Treves, Francesco Musacchia, Fabio Landuzzi, Paola Mandich, Antonio Amoroso, Remo Sanges, Luca Pandolfini, Francesco Cavallieri, Franco Valzania, Valentina Fioravanti, Giulia Di Rauso, Gloria Brescia, Enza Maria Valente, Valeria Tiranti, Luigi Michele Romito, Chiara Reale, Barbara Garavaglia, Antonio Emanuele Elia, Andrea Cavalli, Alessio Di Fonzo, Manuela Vecchi, Stefano Gustincich   +24 more
wiley   +1 more source

Consistent involvement of the bcr gene by 9;22 breakpoints in pediatric acute leukemias [PDF]

, 1991
Kaveri Suryanarayan, SP Hunger, Sabine Köhler, AJ Carroll, W Crist, MP Link, ML Cleary   +6 more
openalex   +1 more source

Three Benefits of Using Nonlinear Compliance in Robotic Systems Performing Cyclic Tasks: Energy Efficiency, Control Robustness, and Gait Optimality

International Journal of Mechanical System Dynamics, EarlyView.
ABSTRACT Nonlinearity in parallel compliance can be exploited to improve the performance of locomotion systems in terms of (1) energy efficiency, (2) control robustness, and (3) gait optimality; that is, attaining energy efficiency across a set of motions. Thus far, the literature has investigated and validated only the first two benefits.
Rezvan Nasiri, Mahdi Khoramshahi, Mohammad Javad Yazdanpanah, Majid Nili Ahmadabadi   +3 more
wiley   +1 more source

Study of the Effect of Doping, Angle, and Temperature on Upper Critical Magnetic Field in Two‐Band Model Nd2−xCex CuO4−δ${\mathrm{Cu}}{{{\mathrm{O}}}_{4 - {{\delta}}}}$ Superconductor

Nano Select, EarlyView.
This study deals with the effect of doping, angle, and temperature on an upper critical magnetic field (HC2) in a layered two‐band model Nd2−xCexCuO4−δ${\mathrm{N}}{{{\mathrm{d}}}_{2 - {\mathrm{x}}}}{\mathrm{C}}{{{\mathrm{e}}}_{\mathrm{x}}}{\mathrm{Cu}}{{{\mathrm{O}}}_{4 - {{\delta}}}}$ (NCCO) superconductor.
Zewdie Yayeh, Gebregziabher Kahsay, Tamiru Negussie   +2 more
wiley   +1 more source

Breakpoint for Forgiveness [PDF]

Academic Emergency Medicine, 2001
openaire   +2 more sources

HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.

, 1987
David J. Porteous, Wendy A. Bickmore, S. Christie, Patricia A. Boyd, Gwen Cranston, Judy Fletcher, John R. Gosden, Derek Rout, Anne Seawright, K. O. J. Simola   +9 more
openalex   +1 more source

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. [PDF]

, 1992
C A Brandt, Jens Michael Hertz, Michael B. Petersen, F. Vogel, Henning Noer, Margareta Mikkelsen   +5 more
openalex   +1 more source

Identification and functional dissection of maize disease resistance genes

New Plant Protection, EarlyView.
The review summarizes recent research advances in the cloning and functional analysis of maize resistance genes and discusses new approaches that may facilitate these research processes, aiming to provide references for future studies. Abstract Maize (Zea mays L.) serves as a staple food in numerous countries and is also used as a raw material for ...
Hongliang Wu, Ying Ding, Haiyue Yu, Xin Xie, Cyrille Saintenac, Zhiqiang Li, Wende Liu   +6 more
wiley   +1 more source

Molecular cloning of the breakpoints of a complex Philadelphia chromosome translocation: identification of a repeated region on chromosome 17. [PDF]

, 1992
Timothy W. McKeithan, Laura M. Warshawsky, R Espinosa, Michelle M. LeBeau   +3 more
openalex   +1 more source

Refuge trifecta: intertidal gastropods use pits to escape heat, wave action and predation

Oikos, EarlyView.
Refuges play a critical role in ecology and evolution. In hard intertidal shores, small pits attract benthic invertebrates such as gastropods, however, there exists little mechanistic understanding of the processes driving the active usage of these microhabitat features. We conducted a series of laboratory experiments to assess whether the marine snail
Joel W. Q. Tan, Janine Ledet, Peter A. Todd   +2 more
wiley   +1 more source