Results 181 to 190 of about 47,155 (269)

Spectrum and Clinical Interpretation of <i>TTN</i> Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic Variants. [PDF]

Int J Mol Sci
Guevara-Ramírez P, Cadena-Ullauri S, Tamayo-Trujillo R, Ruiz-Pozo VA, Paz-Cruz E, Ibarra-Castillo R, Laso-Bayas JL, Zambrano AK.   +7 more
europepmc   +1 more source

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in <i>NRAP</i>. [PDF]

Genes (Basel)
Onore ME, Caiazza M, Mio C, Scarano G, Di Letto P, Rahman SI, Monda E, Amarelli C, Borrelli RN, Faletra F, Nigro V, Limongelli G, Piluso G.   +12 more
europepmc   +1 more source

PM2 Highlights of Core Themes

Highlights of the CT sessions will be published on the public area of the CA-RES website. The Coordinator will have the mandate to produce and publish highlights after each plenary meeting. The contents will be based on the main outcomes of the Core Theme sessions and will be published after approval from the CT leaders.
openaire   +1 more source

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature. [PDF]

NPJ Genom Med
Reuter MS, Salazar NB, Howe JL, Hoang N, Sarikaya E, Selvanayagam T, Mendes de Aquino M, Vicente AM, Oliveira G, Freitag CM, Thiruvahindrapuram B, Trost B, Scherer SW.   +12 more
europepmc   +1 more source

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series. [PDF]

Calcif Tissue Int
Turan I, Atar M, Eltan M, Anik A, Bitkin EC, Dilek SO, Cay M, Bozdogan ST, Döneray H, Kotan D, Turan S, Yüksel B, Topaloglu AK.   +12 more
europepmc   +1 more source

The Lancet Countdown on PM2·5 pollution-related health impacts of China's projected carbon dioxide mitigation in the electric power generation sector under the Paris Agreement: a modelling study.

Lancet Planetary Health, 2018
W. Cai, Jingxuan Hui, Can Wang, Yixuan Zheng, Xin Zhang, Qiang Zhang, Peng Gong   +6 more
semanticscholar   +1 more source

Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study. [PDF]

J Int Med Res
Li SG, Wei CQ, Su DY, Chen C, Qin SY, Ye BB, Pang YS.   +6 more
europepmc   +1 more source

Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort. [PDF]

Front Genet
Gupta S, Srivastava P, Daniel R, Bhardwaj C, Kaur P, Bawa P, Kumari A, Bhadoriya RPS, Peters M, Kaur A, Panigrahi I.   +10 more
europepmc   +1 more source

Positional cloning of PmCH1357 reveals the origin and allelic variation of the Pm2 gene for powdery mildew resistance in wheat

, 2019
Chen Fang, Haiyan Jia, Haiyan Jia, Xiaojun Zhang, Qiao Linyi, Xin Li, Zheng Jun, Huijuan Guo, Carol Powers, Liuling Yan, Z. Chang   +10 more
semanticscholar   +1 more source

Genetic and Clinical Characterization of FLNC Variants in Chinese Patients with Cardiomyopathy. [PDF]

J Cardiovasc Dev Dis
Xing G, Chen L, Lv L, Hu C, Liu S, Duan Y, Li J, Wang Q, Li X.   +8 more
europepmc   +1 more source