Results 61 to 70 of about 89,794 (315)

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

CARACTERIZACIÓN Y EVALUACIÓN DE CATALIZADORES DE NÍQUEL EN LA REACCIÓN WGS

Revista de Investigaciones Universidad del Quindío, 2013
La producción de hidrogeno es de vital importancia para diversos procesos industriales y en este contexto la reacción WGS es de gran utilidad para conseguir altos valores de pureza de este elemento, especialmente por su reciente uso en la obtención de ...
Maria do Carmo Rangel, Johana Rodriguez Ruiz, Edgardo Meza Fuentes   +2 more
doaj  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Antimicrobial Resistance and the Genomic Epidemiology of Multidrug-Resistant Salmonella enterica serovar Enteritidis ST11 in China

Frontiers in Bioscience-Landmark
Background: With the recent evolution of multidrug-resistant strains, the genetic characteristics of foodborne Salmonella enterica serovar Enteritidis and clinical isolates have changed. ST11 is now the most common genotype associated with S. Enteritidis
Jie Liu, Yue Hou, Linna Zhao, Gang Chen, Jialiang Chen, Qiang Zhao, Liyan Ye, Shenghui Cui, Chengbin Wang   +8 more
doaj   +1 more source

Molecular level understanding of WGS and reverse WGS reactions on Rh through hierarchical multiscale approach

, 2012
Hierarchically combining semi-empirical methods and first-principles calculations we gain a novel and noteworthy picture of the molecular-level mechanisms that govern the water–gas-shift (WGS) and reverse water–gas-shift (r-WGS) reactions on Rh catalysts.
Reuter, K., K. Reuter, Maestri, M., MAESTRI, MATTEO   +3 more
core   +1 more source

HybSuite: An integrated pipeline for hybrid capture phylogenomics from reads to trees

Applications in Plant Sciences, EarlyView.
Abstract Premise Hybrid capture sequencing (Hyb‐Seq) is a widely used approach in phylogenomics, providing efficient access to targeted genomic regions. However, deriving high‐quality phylogenetic trees from raw sequencing reads requires extensive bioinformatics processing, which increases complexity, the risk of errors, and challenges in file ...
Yu‐Xuan Liu, Zi‐Jia Lu, Wyckliffe Omondi Omollo, Meng‐Meng Wang, Li‐Guo Zhang, Tao Xiong, Xue‐Qin Wang, Yi‐Ying Wang, Miao Sun   +8 more
wiley   +1 more source

Genetic characterisation of Germanata Veneta and Mignon local duck breeds (Anas platyrhynchos) using whole-genome sequencing

Italian Journal of Animal Science
This study investigated the genetic diversity and conservation status of two endangered Italian duck breeds: Germanata Veneta (GER, n = 50) and Mignon (MIG, n = 50). The DNA was extracted from blood and analysed through whole-genome sequencing.
Francesco Perini, Enrico Bortoletto, Filippo Cendron, Umberto Rosani, Emiliano Lasagna, Maristella Baruchello, Martino Cassandro, Mauro Penasa   +7 more
doaj   +1 more source

HapAsmbl: A reference‐aided pipeline for assembling haplotypes in Nanopore amplicon sequence data of polymorphic populations

Applications in Plant Sciences, EarlyView.
Abstract Premise Advances in long‐read sequencing offer new possibilities to investigate haplotype diversity across multiple genes in plants and other taxa through multi‐locus, long‐read amplicon sequencing (multi‐locus LRAS). Despite this progress, there is a notable absence of dedicated bioinformatics pipelines for assembling diploid haplotypes of ...
Ayodele Oluwaseyi Fakoya, Augustine Chen, Rowan Paul Herridge, Richard Colin Macknight, Lynette Ruth Brownfield   +4 more
wiley   +1 more source

Validated MP-WGS findings.

, 2018
Validated MP-WGS findings.
Anh Nhi Tran (4952269), Magnus Nordenskjöld (118610), Daniel Nilsson (29307), Francesco Vezzi (107361), Ingegerd Ivanov Öfverholm (4952275), Britta Lötstedt (3552956), Vasilios Zachariadis (4952278), Ann Nordgren (507950), Gisela Barbany (4952266), Fulya Taylan (4952272), Anna Lindstrand (764128)   +10 more
core   +1 more source