Results 61 to 70 of about 3,147 (209)

Conditional targeting of Ispd using paired Cas9 nickase and a single DNA template in mice

FEBS Open Bio, 2014
CRISPR/Cas9 technology is a highly promising genome editing tool in the mouse, potentially overcoming the costs and time required for more traditional gene targeting methods in embryonic stem (ES) cells.
Angus Yiu-fai Lee, Kevin C. Kent Lloyd
doaj   +1 more source

Clinical Use of Combined First‐Trimester Screening Test for Aneuploidy in A Low‐Income Setting: Retrospective Study

Health Science Reports, Volume 9, Issue 4, April 2026.
ABSTRACT Background Although combined first trimester screening is effective at detecting fetal chromosomal anomalies which are trisomy 21, 18 and 13, there is scarce data on its practice and practice in low‐income countries. This study presents data on clinical use of combined first trimester prenatal screening tests among pregnant women in a Sub ...
Tesfaye Diress, Mekitie Wondafrash, Wondimu Gudu, Abdulfetah Abdulkadir Abdosh, Abraham Fessehaye Sium   +4 more
wiley   +1 more source

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, Tony Roscioli, Manon Suerink   +6 more
wiley   +1 more source

Prediction of DC Breakdown Strength for Polymer Nanocomposite Based on Energy Depth of Trap

Energies
Understanding the role of carrier traps in the determination of dielectric breakdown of polymer nanocomposite would yield a novel method for the estimation of breakdown strength of the material.
Xiaohu Qi, Jian Guan, Xuri Xu, Zhen Zhang, Chuanyun Zhu, Chenyi Guo, Qifeng Shang, Yu Gao   +7 more
doaj   +1 more source

The Diverse Behaviours of Discharged Degradation at Varied Interfaces of Silicone Gel/Ceramic Substrates Under High‐Frequency Square Wave Voltage

High Voltage, Volume 11, Issue 2, Page 522-533, April 2026.
ABSTRACT Because of the harsh serving conditions of insulated gate bipolar transistor (IGBT) packaged by silicone gel with high voltage and high frequency, it is crucial to reveal the developing characteristics and inhibiting method of discharged degradation at the interface of silicone gel/ceramic substrates.
Chuang Zhang, Xinlu Li, Hongjian Liu, Ruomeng An, Lingqi Guo, Jiaqi Liu, Shihang Wang, Shengtao Li   +7 more
wiley   +1 more source

A child of congenital muscular dystrophy-dystroglycanopathy with homozygous missense variation in exon 3 of the ISPD Gene: A rare case from Odisha

Advanced Biomedical Research, 2020
Dystroglycanopathy is a type of congenital muscular dystrophy caused by mutations causing defective glycosylation of a dystrophin-associated glycoprotein, dystroglycan and as such is a very rare disease entity.
Sebaranjan Biswal, Debasish Panigrahi, Nirmal Kumar Mohakud, Manoj Kumar, Natabara Swain   +4 more
doaj   +1 more source

Dielectric Breakdown Characteristics of Biaxially Oriented Polypropylene Films: Surface Structures on Thickness Dependence

High Voltage, Volume 11, Issue 2, Page 513-521, April 2026.
ABSTRACT Film capacitors, essential for energy storage in power systems, benefit from reduced film thickness to increase capacitance and lower costs. While the inverse power law traditionally links higher electric strength with thinner films, its validity diminishes below a critical thickness.
Chuansheng Zhang, Chengyan Ren, Yu Feng, Yi Luo, Cheng Zhang, Tao Shao   +5 more
wiley   +1 more source

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. [PDF]

, 2012
International audienceCobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical ...
Gonzales, Marie, Clemenson, Alix, Monnot, Sophie, Grandchamp, Bernard, Encha-Razavi, Férechté, Fallet-Bianco, Catherine, Bonnière, Maryse, Bole-Feysot, Christine, Carles, Dominique, Quentin, Samuel, Chelbi, Malika, Bouchet-Séraphin, Céline, Bernard, Jean-Pierre, Loeuillet, Laurence, Laquerrière, Annie, Guimiot, Fabien, Socha, Koryna, Odent, Sylvie, Vuillaumier-Barrot, Sandrine, Aziza, Jacqueline, Gazal, Steven, Devisme, Louise, Loget, Philippe, Seta, Nathalie, Bazin, Anne, Attié-Bitach, Tania   +25 more
core   +1 more source

Guía clínica de adecuación y prescripción de la diálisis peritoneal

Nefrología
Resumen: En los últimos años se ha modificado el significado de adecuación en diálisis peritoneal. Hemos asistido a una transición desde un concepto de adecuación enfocado esencialmente a la obtención de unos objetivos en determinados parámetros ...
Mercè Borràs Sans, Esther Ponz Clemente, Ana Rodríguez Carmona, Manel Vera Rivera, Miguel Pérez Fontán, Carlos Quereda Rodríguez-Navarro, M. Auxiliadora Bajo Rubio, Verónica de la Espada Piña, Mercedes Moreiras Plaza, Javier Pérez Contreras, Gloria del Peso Gilsanz, Mario Prieto Velasco, Pedro Quirós Ganga, César Remón Rodríguez, Emilio Sánchez Álvarez, Nicanor Vega Rodríguez, Nuria Aresté Fosalba, Yolanda Benito, M. José Fernández Reyes, Isabel García Martínez, José Ignacio Minguela Pesquera, Maite Rivera Gorrín, Ana Usón Nuño   +22 more
doaj   +1 more source

Transcriptomic profiling reveals MEP pathway contributing to ginsenoside biosynthesis in Panax ginseng

BMC Genomics, 2019
Background Panax ginseng C. A. Mey is one of famous medicinal herb plant species. Its major bioactive compounds are various ginsenosides in roots and rhizomes.
Le Xue, Zilong He, Xiaochun Bi, Wei Xu, Ting Wei, Shuangxiu Wu, Songnian Hu   +6 more
doaj   +1 more source