Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

por Hua Wang, Liang Huo, Yajian Wang, Weiwei Sun, Weiyue Gu
Publicado 2021

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

por Bianca deAguiar Coelho Silva Madeiro, Kristien Peeters, Elker Lene Santos de Lima, Silvia Amor‐Barris, Els De Vriendt, Albena Jordanova, Maria Tereza Cartaxo Muniz, Carolina da Cunha Correia
Publicado 2021

The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease

por Juan Yang, Xiaoting Ding, Shasha Meng, Jinhua Cai, Weihui Zhou
Publicado 2021

Mid-infrared all-fiber gain-switched pulsed laser at 3 μm

por Zhang Xiaojin, Li Weiwei, Li Jin, Xu Huiying, Cai Zhiping, Luo Zhengqian
Publicado 2020

Amputation for chronic pain and/or functional impairment of a limb

por Evelyne Linden, Koen Peers, Carlotte Kiekens
Publicado 2021

Omics Technologies to Enhance Plant Based Functional Foods: An Overview

por Spurthi N. Nayak, B. Aravind, Sachin S. Malavalli, B. S. Sukanth, R. Poornima, Pushpa Bharati, Kathleen Hefferon, Chittaranjan Kole, Naveen Puppala
Publicado 2021

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome

por Sukun Luo, Bo Bi, Wenqian Zhang, Rui Zhou, Wei Chen, Peiwei Zhao, Yufeng Huang, Li Yuan, Xuelian He
Publicado 2021

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

por Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova
Publicado 2021

Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical stud...

por Mohamed Ali Mosrati, Karima Fadhlaoui‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi
Publicado 2021

Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome

por Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong‐Hee Chae, Soo Yeon Kim, Jung Min Ko
Publicado 2021

Dimensi Sosial Budaya Bagi Keragaman Praktik Perawatan Kesehatan Penderita Malaria di Topoyo Provinsi Sulawesi Barat

por Yahya - Kadir
Publicado 2018

The impact of ACE2 genetic polymorphisms (rs2106809 and rs2074192) on gender susceptibility to COVID-19 infection and recovery: A systematic review

por Ahmed A. Suleiman, Tamadher A. Rafaa, Ali M. Al­rawi, Mustafa F. Dawood
Publicado 2021

Menopausia y Terapia Hormonal de la Menopausia Las recomendaciones 2018 de la Unidad de Endocrinología Ginecológica de Clínica Alemana de Santiago -Sociedad Italiana de la Menopaus...

por Parra,M., Lagos,N., Levancini,M., Villarroel,M., Pizarro,E., Vanhauwaert,P, Velasco,S., Fernadez,M, Gambacciani,M., Biglia,N., Cagnacci,A., Caruso,S., Cicinelli,E., Leo,V. De, Carlo,C. Di, Farris,M., Gambera,A., Guaschino,S., Lanzone,A, Paoletti,AM, Russo,N., Vicariotto,F., Villa,P., Volpe,A., Lavin,P., Lopez,M., Campusano,C., Barriga,P., Brantes,S.
Publicado 2018

Paediatric obesity: a systematic review and pathway mapping of metabolic alterations underlying early disease processes

por Margot De Spiegeleer, Ellen De Paepe, Lieven Van Meulebroek, Inge Gies, Jean De Schepper, Lynn Vanhaecke
Publicado 2021

LncRNA-ATB participates in the regulation of calcium oxalate crystal-induced renal injury by sponging the miR-200 family

por Yinhui Li, Tao Ding, Haiyan Hu, Tingting Zhao, Chao Zhu, Jiarong Ding, Jihang Yuan, Zhiyong Guo
Publicado 2021

Current practice of thoracic anaesthesia in Europe – a survey by the European Society of Anaesthesiology Part I – airway management and regional anaesthesia techniques

por Jerome Defosse, Mark Schieren, Torsten Loop, Vera von Dossow, Frank Wappler, Marcelo Gama de Abreu, Mark Ulrich Gerbershagen
Publicado 2021

Weighted gene co-expression network-based approach to identify key genes associated with anthracycline-induced cardiotoxicity and construction of miRNA-transcription factor-gene re...

por Guoxing Wan, Peinan Chen, Xue Sun, Xiaojun Cai, Xiongjie Yu, Xianhe Wang, Fengjun Cao
Publicado 2021

iNutritionApp: Mobile Application for Nutrition Monitoring using FatSecret API

Publicado 2021

Sequential Extraction, Characterization, and Analysis of Pumpkin Polysaccharides for Their Hypoglycemic Activities and Effects on Gut Microbiota in Mice

por Hui-qing Wu, Zhi-li Ma, De-xin Zhang, Ping Wu, Yuan-hua Guo, Fang Yang, De-yuan Li
Publicado 2021

Metabolic engineering strategies for de novo biosynthesis of sterols and steroids in yeast

por Yuehao Gu, Xue Jiao, Lidan Ye, Hongwei Yu
Publicado 2021