Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 8195 of 10600

ATP-sensitive potassium channels gene polymorphism rs1799858 affects the risk of macro-/micro-vascular arteriosclerotic event in patients with increased low-density lipoprotein cholesterol levels.
Lipids in health and disease | 2020-06-23 | PMID 32576189
Liu Cheng, Guan Tianwang, Lai Yanxian and 3 more
Enterocytozoon bieneusi in donkeys from Xinjiang, China: prevalence, molecular characterization and the assessment of zoonotic risk.
BMC veterinary research | 2020-06-15 | PMID 32576195
Zhao Aiyun, Zhang Ying, Wang Wen and 5 more
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Orphanet journal of rare diseases | 2020-06-23 | PMID 32576226
Liang Wen-Chen, Jong Yuh-Jyh, Wang Chien-Hua and 7 more
Altered levels of CSF proteins in patients with FTD, presymptomatic mutation carriers and non-carriers.
Translational neurodegeneration | 2020-06-23 | PMID 32576262
Remnestål Julia, Öijerstedt Linn, Ullgren Abbe and 9 more
Whole-genome sequence association analysis of blood proteins in a longitudinal wellness cohort.
Genome medicine | 2020-06-23 | PMID 32576278
Zhong Wen, Gummesson Anders, Tebani Abdellah and 7 more
Towards a disease-associated common trait of gut microbiota dysbiosis: The pivotal role of Akkermansia muciniphila.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2020-09-01 | PMID 32576522
Lopetuso Loris Riccardo, Quagliariello Andrea, Schiavoni Mario and 10 more
Targeted Sequencing of Circulating Cell Free DNA Can Be Used to Monitor Therapeutic Efficacy of Tyrosine Kinase Inhibitors in Non-small Cell Lung Cancer Patients.
Cancer genomics & proteomics | 2000-01-01 | PMID 32576586
Chiou Chiuan-Chian, Wang Chih-Liang, Luo Ji-Dung and 3 more
Association of Relative Leucocyte Telomere Length and Gene Single Nucleotide Polymorphisms (TERT, TRF1, TNKS2) in Laryngeal Squamous Cell Carcinoma.
Cancer genomics & proteomics | 2000-01-01 | PMID 32576588
Vaiciulis Paulius, Liutkeviciene Rasa, Liutkevicius Vykintas and 3 more
Parkinson's disease: etiopathogenesis and treatment.
Journal of neurology, neurosurgery, and psychiatry | 2020-08-01 | PMID 32576618
Jankovic Joseph, Tan Eng King
Effects of TPH2 gene variation and childhood trauma on the clinical and circuit-level phenotype of functional movement disorders.
Journal of neurology, neurosurgery, and psychiatry | 2020-08-01 | PMID 32576619
Spagnolo Primavera A, Norato Gina, Maurer Carine W and 4 more
Development, internal validation and calibration of a risk score to predict survival in patients with EGFR-mutant non-small cell lung cancer.
Journal of clinical pathology | 2021-02-01 | PMID 32576630
Ng Isaac Ks, Kumarakulasinghe Nesaretnam Barr, Syn Nicholas L and 1 more
Sporadic vestibular schwannoma: a molecular testing summary.
Journal of medical genetics | 2021-04-01 | PMID 32576656
Sadler Katherine V, Bowers Naomi L, Hartley Claire and 15 more
Genotypic and Phenotypic Diversity of Staphylococcus aureus Isolates from Cystic Fibrosis Patient Lung Infections and Their Interactions with Pseudomonas aeruginosa.
mBio | 2020-06-23 | PMID 32576671
Bernardy Eryn E, Petit Robert A, Raghuram Vishnu and 3 more
Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.
Translational psychiatry | 2020-06-23 | PMID 32576818
Schneider Andrea, Winarni Tri Indah, Cabal-Herrera Ana María and 5 more
Endothelial activation of caspase-9 promotes neurovascular injury in retinal vein occlusion.
Nature communications | 2020-06-23 | PMID 32576823
Avrutsky Maria I, Ortiz Crystal Colón, Johnson Kendra V and 11 more
The mutREAD method detects mutational signatures from low quantities of cancer DNA.
Nature communications | 2020-06-23 | PMID 32576827
Perner Juliane, Abbas Sujath, Nowicki-Osuch Karol and 4 more
Crystal structures of SAMHD1 inhibitor complexes reveal the mechanism of water-mediated dNTP hydrolysis.
Nature communications | 2020-06-23 | PMID 32576829
Morris Elizabeth R, Caswell Sarah J, Kunzelmann Simone and 4 more
Piezo2 expressed in proprioceptive neurons is essential for skeletal integrity.
Nature communications | 2020-06-23 | PMID 32576830
Assaraf Eran, Blecher Ronen, Heinemann-Yerushalmi Lia and 8 more
Comparative targeting analysis of KLF1, BCL11A, and HBG1/2 in CD34+ HSPCs by CRISPR/Cas9 for the induction of fetal hemoglobin.
Scientific reports | 2020-06-23 | PMID 32576837
Lamsfus-Calle Andrés, Daniel-Moreno Alberto, Antony Justin S and 10 more
Two novel fish paralogs provide insights into the Rid family of imine deaminases active in pre-empting enamine/imine metabolic damage.
Scientific reports | 2020-06-23 | PMID 32576850
Digiovanni Stefania, Visentin Cristina, Degani Genny and 9 more
Heritability and genome-wide association of swine gut microbiome features with growth and fatness parameters.
Scientific reports | 2020-06-23 | PMID 32576852
Bergamaschi Matteo, Maltecca Christian, Schillebeeckx Constantino and 5 more
Genome-wide DNA methylation analysis of KRAS mutant cell lines.
Scientific reports | 2020-06-23 | PMID 32576853
Tew Ben Yi, Durand Joel K, Bryant Kirsten L and 8 more
Hyaloid vasculature and mmp2 activity play a role during optic fissure fusion in zebrafish.
Scientific reports | 2020-06-23 | PMID 32576859
Weaver Megan L, Piedade Warlen P, Meshram Nishita N and 1 more
Allele-specific expression is widespread in Bos indicus muscle and affects meat quality candidate genes.
Scientific reports | 2020-06-23 | PMID 32576896
de Souza Marcela Maria, Zerlotini Adhemar, Rocha Marina Ibelli Pereira and 13 more
Comparative and Phylogenetic Analyses of the Complete Chloroplast Genomes of Six Almond Species (Prunus spp. L.).
Scientific reports | 2020-06-23 | PMID 32576920
Wang Wei, Yang Tao, Wang Hui-Ling and 4 more
Amyloid precursor protein-b facilitates cell adhesion during early development in zebrafish.
Scientific reports | 2020-06-23 | PMID 32576936
Banote Rakesh Kumar, Chebli Jasmine, Şatır Tuğçe Munise and 6 more
No evidence for a relationship between MHC heterozygosity and life history strategy in a sample of North American undergraduates.
Scientific reports | 2020-06-23 | PMID 32576939
Murray Damian R, Moran James B, Prokosch Marjorie L and 1 more
Asymmetry between Activators and Deactivators in Functional Protein Networks.
Scientific reports | 2020-06-23 | PMID 32576941
Tareen Ammar, Wingreen Ned S, Mukhopadhyay Ranjan
The origin of sheep settlement in Western Mediterranean.
Scientific reports | 2020-06-23 | PMID 32576960
Kandoussi Asmae, Boujenane Ismaïl, Auger Clément and 6 more
Effective drug treatment identified by in vivo screening in a transplantable patient-derived xenograft model of chronic myelomonocytic leukemia.
Leukemia | 2020-11-01 | PMID 32576961
Kloos Arnold, Mintzas Konstantinos, Winckler Lina and 16 more
Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL.
Leukemia | 2020-10-01 | PMID 32576963
Baliñas-Gavira Carlos, Rodríguez María I, Andrades Alvaro and 11 more
The association of inflammasome and TLR2 gene polymorphisms with susceptibility to tuberculosis in the Han Taiwanese population.
Scientific reports | 2020-06-23 | PMID 32576967
Liu Chi-Wei, Lin Chou-Jui, Hu Hui-Chun and 4 more
Genetic Factors and Delayed TSB Monitoring and Treatment as Risk Factors Associated with Severe Hyperbilirubinemia in Term Neonates Admitted for Phototherapy.
Journal of tropical pediatrics | 2020-12-01 | PMID 32577754
Boo Nem-Yun, Sin Shwe, Chee Seok-Chiong and 4 more
Molecular karyotyping and gene expression analysis in childhood cancer patients.
Journal of molecular medicine (Berlin, Germany) | 2020-08-01 | PMID 32577795
Danuta Galetzka, Tobias Müller, Marcus Dittrich and 17 more
IConMHC: a deep learning convolutional neural network model to predict peptide and MHC-I binding affinity.
Immunogenetics | 2020-07-01 | PMID 32577798
Pei Baikang, Hsu Yi-Hsiang
Molecular characterization and identification of Blastocystis and its subtypes from raccoon (Procyon lotor) in north of Iran.
Parasitology research | 2020-08-01 | PMID 32577820
Mohammad Rahimi Hanieh, Nemati Sara, Mirjalali Hamed and 2 more
Outcome of interspecific competition depends on genotype of conspecific neighbours.
Oecologia | 2020-06-01 | PMID 32577823
Yamawo Akira, Mukai Hiromi
"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation.
Journal of neurology | 2020-11-01 | PMID 32577866
Ji Kunqian, Zhao Bing, Lin Yan and 5 more
Real-time PCR-based quantitation of viable Mycobacterium leprae strain from clinical samples and environmental sources and its genotype in multi-case leprosy families of India.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 2020-11-01 | PMID 32577954
Singh Vikram, Turankar Ravindra P, Goel Anjana
Comparative analysis and natural evolution of squalene epoxidase in three Fritillaria species.
Plant molecular biology | 2020-08-01 | PMID 32577984
Lu Xu, Zhang Lin-Ning, Du Jin-Fa and 5 more
Development and optimisation of molecular assays for microsatellite genotyping and molecular sexing of non-invasive samples of the ghost bat, Macroderma gigas.
Molecular biology reports | 2020-07-01 | PMID 32577991
Ottewell Kym, Thavornkanlapachai Rujiporn, McArthur Shelley and 6 more
The correlation of combined OGG1, CYP1A1 and GSTP1 gene variants and risk of lung cancer of male Iraqi waterpipe tobacco smokers.
Molecular biology reports | 2020-07-01 | PMID 32577993
Kudhair Bassam K, Alabid Noralhuda N, Zayed Karrar S and 2 more
The Polymorphism of LvMMD2 and Its Association with Growth Traits in Litopenaeus vannamei.
Marine biotechnology (New York, N.Y.) | 2020-08-01 | PMID 32578061
Wang Quanchao, Yu Yang, Zhang Qian and 4 more
Use of multivariate factor analysis of detailed milk fatty acid profile to perform a genome-wide association study in Italian Simmental and Italian Holstein.
Journal of applied genetics | 2020-09-01 | PMID 32578141
Palombo Valentino, Conte Giuseppe, Mele Marcello and 4 more
Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons.
Advances in neurobiology | 2020-01-01 | PMID 32578145
Turkalj Luka, Mehta Monal, Matteson Paul and 5 more
The Multidisciplinary Approach to The Study of Chronic Pelvic Pain (MAPP) Research Network*: Design and implementation of the Symptom Patterns Study (SPS).
Neurourology and urodynamics | 2020-08-01 | PMID 32578257
Clemens J Quentin, Kutch Jason J, Mayer Emeran A and 20 more
Uncovering Biological Application of Brazilian Green Propolis: A Phenotypic Screening against Schistosoma mansoni.
Chemistry & biodiversity | 2020-09-01 | PMID 32578329
A de L Paula Lucas, Santos Mario F C, Pagotti Mariana C and 7 more
Pluripotency-associated genes reposition during early embryonic developmental stages in pigs.
Animal science journal = Nihon chikusan Gakkaiho | 2000-01-01 | PMID 32578338
Nguyen Hiep Thi, Nghia Nguyen Trong, Lien Nghiem Thi Ha and 7 more
von Willebrand disease: Diagnosis and treatment, treatment of women, and genomic approach to diagnosis.
Haemophilia : the official journal of the World Federation of Hemophilia | 2021-02-01 | PMID 32578345
Laffan Michael, Sathar Jameela, Johnsen Jill M
A Mendelian randomization study of the causal association between anxiety phenotypes and schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2020-09-01 | PMID 32578352
Jones Hannah J, Martin David, Lewis Sarah J and 5 more
Analysis of targeted somatic mutations in pleomorphic carcinoma of the lung using next-generation sequencing technique.
Thoracic cancer | 2020-08-01 | PMID 32578376
Manabe Saki, Kasajima Rika, Murakami Shuji and 7 more
Nanopore Targeted Sequencing for the Accurate and Comprehensive Detection of SARS-CoV-2 and Other Respiratory Viruses.
Small (Weinheim an der Bergstrasse, Germany) | 2020-08-01 | PMID 32578378
Wang Ming, Fu Aisi, Hu Ben and 15 more
Post-hoc analysis of single nucleotide polymorphism profile for eyes with vascularized pigment epithelial detachment due to ARMD.
European journal of ophthalmology | 2021-05-01 | PMID 32578437
Lee Daniel, Chan Clement K, Abraham Prema and 1 more
Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.
Human gene therapy | 2020-07-01 | PMID 32578444
Kleine Holthaus Sophia-Martha, Aristorena Mikel, Maswood Ryea and 6 more
Optisol-GS Storage of Cultured Human Limbal Epithelial Cells at Ambient Temperature Is Superior to Hypothermic Storage.
Current eye research | 2020-12-01 | PMID 32578462
Jackson Catherine Joan, Pasovic Lara, Raeder Sten and 5 more
Polyneuropathy in Young Siberian Huskies Caused by Degenerative and Inflammatory Diseases.
Veterinary pathology | 2020-09-01 | PMID 32578500
Jahns Hanne, Vernau Karen M, Nolan Catherine M and 3 more
Tyrosinase-crosslinked, tissue adhesive and biomimetic alginate sulfate hydrogels for cartilage repair.
Biomedical materials (Bristol, England) | 2020-06-24 | PMID 32578533
Öztürk Ece, Stauber Tino, Levinson Clara and 3 more
Genomic surveillance of the Chikungunya Virus (CHIKV) in Northeast Brazil after the first outbreak in 2014.
Revista da Sociedade Brasileira de Medicina Tropical | 2020-01-01 | PMID 32578706
Rodrigues Ayslany Melo, Souza Rafael Ribeiro Mota, Fonseca Larissa Moraes Dos Santos and 4 more
Cost-utility analysis of interferon-free treatments for patients with early-stage genotype 1 hepatitis C virus in Brazil.
Revista da Sociedade Brasileira de Medicina Tropical | 2020-01-01 | PMID 32578707
Ferreira Vinicius Lins, Leonart Leticia Paula, Pedroso Maria Lucia Alves and 1 more
Association of TLR3 single nucleotide polymorphisms with susceptibility to HTLV-1 infection in Iranian asymptomatic blood donors.
Revista da Sociedade Brasileira de Medicina Tropical | 2020-01-01 | PMID 32578708
Habibabadi Hossein Mehrabi, Parsania Masoud, Pourfathollah Ali Akbar and 2 more
miR-125a-5p inhibits cancer stem cells phenotype and epithelial to mesenchymal transition in glioblastoma.
Revista da Associacao Medica Brasileira (1992) | 2020-04-01 | PMID 32578777
Zhu Xi-De, Gao Zhen-Juan, Zheng Guo-Dong
Study of angiopoietin and plasminogen genes in hereditary angioedema.
Revista da Associacao Medica Brasileira (1992) | 2020-04-01 | PMID 32578786
Kruk Tatielly, Chong-Neto Herberto José, Dias Marina Mendonça and 6 more
Tacrolimus therapeutic efficacy in post-liver transplant patients with Cytochrome P450 3A5 (CYP3A5) genetic polymorphisms.
Revista do Colegio Brasileiro de Cirurgioes | 2020-06-03 | PMID 32578817
Bezerra Lucas Soares, Santos-Veloso Marcelo Antônio Oliveira, Oliveira Saulo Bruno Lopes de and 4 more
Genetic variation in NOD1/CARD4 and NOD2/CARD15 immune sensors and risk of osteoporosis.
Bioscience reports | 2020-07-31 | PMID 32578848
Soyocak Ahu, Özgen Merih, Turgut Coşan Didem and 5 more
A relic of the past: current genetic patterns of the palaeoendemic tree Nothofagus macrocarpa were shaped by climatic oscillations in central Chile.
Annals of botany | 2020-10-06 | PMID 32578853
Mathiasen Paula, Venegas-González Alejandro, Fresia Pablo and 1 more
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
Clinical genetics | 2020-09-01 | PMID 32578875
Hamdan Nadine, Mehawej Cybel, Sebaaly Ghada and 5 more
Interspecific allometry for sexual shape dimorphism: Macroevolution of multivariate sexual phenotypes with application to Rensch's rule.
Evolution; international journal of organic evolution | 2020-09-01 | PMID 32578880
Adams Dean C, Glynne Elizabeth, Kaliontzopoulou Antigoni
Treatment with buprenorphine prior to EcoHIV infection of mice prevents the development of neurocognitive impairment.
Journal of leukocyte biology | 2021-03-01 | PMID 32578908
Jaureguiberry-Bravo Matias, Kelschenbach Jennifer, Murphy Aniella and 9 more
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Molecular genetics & genomic medicine | 2020-09-01 | PMID 32578940
Nixon Thomas, Richards Allan J, Lomas Adrian and 5 more
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
Molecular genetics & genomic medicine | 2020-09-01 | PMID 32578945
Pierzynowska Karolina, Mański Arkadiusz, Limanówka Monika and 4 more
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Molecular genetics & genomic medicine | 2020-09-01 | PMID 32578970
Telese Roberta, Pagliarani Serena, Lerario Alberto and 10 more
Screening Andean Diversity Panel Dry Bean Lines for Resistance to Bacterial Brown Spot Disease Under Field Conditions in South Africa.
Plant disease | 2020-09-01 | PMID 32579057
Salegua Venâncio, Melis Rob, Fourie Deidré and 2 more
Identification of luteolin -7-glucoside and epicatechin gallate from Vernoniacinerea, as novel EGFR L858R kinase inhibitors against lung cancer: Docking and simulation-based study.
Journal of biomolecular structure & dynamics | 2021-09-01 | PMID 32579072
Maiti Priyanka, Nand Mahesha, Joshi Tushar and 2 more
Whole-genome sequencing analysis of multidrug-resistant Mycobacterium tuberculosis from Java, Indonesia.
Journal of medical microbiology | 2020-07-01 | PMID 32579102
Tania Tryna, Sudarmono Pratiwi, Kusumawati R Lia and 7 more
Human bocavirus (HBoV) in Kuwait: molecular epidemiology and clinical outcome of the virus among patients with respiratory diseases.
Journal of medical microbiology | 2020-07-01 | PMID 32579103
Madi Nada M, Al-Adwani Anfal
Microglia TREM2R47H Alzheimer-linked variant enhances excitatory transmission and reduces LTP via increased TNF-α levels.
eLife | 2020-06-24 | PMID 32579116
Ren Siqiang, Yao Wen, Tambini Marc D and 3 more
De Novo Shoot Regeneration Controlled by HEN1 and TCP3/4 in Arabidopsis.
Plant & cell physiology | 2020-09-01 | PMID 32579181
Yang Woorim, Choi Myung-Hwan, Noh Bosl and 1 more
HAPPI GWAS: Holistic Analysis with Pre- and Post-Integration GWAS.
Bioinformatics (Oxford, England) | 2020-11-01 | PMID 32579187
Slaten Marianne L, Chan Yen On, Shrestha Vivek and 2 more
Morphological and metabolic profiling of a tropical-adapted potato association panel subjected to water recovery treatment reveals new insights into plant vigor.
The Plant journal : for cell and molecular biology | 2020-09-01 | PMID 32579242
Toubiana David, Cabrera Rodrigo, Salas Elisa and 6 more
Eighteen-year follow-up cohort study on hepatitis B and C virus infections related long-term prognosis among hemodialysis patients in Hiroshima.
Journal of medical virology | 2020-12-01 | PMID 32579260
Ko Ko, Nagashima Shintaro, Yamamoto Chikako and 9 more
Resolvin E1 derived from eicosapentaenoic acid prevents hyperinsulinemia and hyperglycemia in a host genetic manner.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2020-08-01 | PMID 32579292
Pal Anandita, Al-Shaer Abrar E, Guesdon William and 12 more
[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease].
Ideggyogyaszati szemle | 2020-05-30 | PMID 32579304
Molnár Mária Judit, Borsos Beáta, Várdi Katalin Visy and 8 more
Targeted genotype analyses of GWAS-derived lean body mass and handgrip strength-associated single-nucleotide polymorphisms in elite master athletes.
American journal of physiology. Regulatory, integrative and comparative physiology | 2020-08-01 | PMID 32579386
Crossland Hannah, Piasecki Jessica, McCormick Daniel and 6 more
Impact of single nucleotide polymorphisms (R132Q and W120R) on the binding affinity and metabolic activity of CYP2C19 toward some therapeutically important substrates.
Xenobiotica; the fate of foreign compounds in biological systems | 2020-12-01 | PMID 32579425
Derayea Sayed M, Tsujino Hirofumi, Oyama Yukiko and 3 more
Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.
Current Alzheimer research | 2020-01-01 | PMID 32579498
Zhou Jiajia, Chen Yi, Meng Fanxia and 3 more
Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China.
Medical science monitor : international medical journal of experimental and clinical research | 2020-06-24 | PMID 32579544
Liang Zhong, Hu Weidong, Li Shuping and 2 more
The kinase Isr1 negatively regulates hexosamine biosynthesis in S. cerevisiae.
PLoS genetics | 2020-06-01 | PMID 32579556
Alme Emma B, Stevenson Erica, Krogan Nevan J and 2 more
Whole-genome sequencing reveals origin and evolution of influenza A(H1N1)pdm09 viruses in Lincang, China, from 2014 to 2018.
PloS one | 2020-01-01 | PMID 32579578
Zhao Xiao-Nan, Zhang Han-Ju, Li Duo and 7 more
Parrot bornavirus in naturally infected Brazilian captive parrots: Challenges in viral spread control.
PloS one | 2020-01-01 | PMID 32579594
Silva Aila Solimar Gonçalves, Raso Tânia Freitas, Costa Erica Azevedo and 2 more
ZapE/Afg1 interacts with Oxa1 and its depletion causes a multifaceted phenotype.
PloS one | 2020-01-01 | PMID 32579605
Pyrih Jan, Rašková Vendula, Škodová-Sveráková Ingrid and 2 more
Correlations between single nucleotide polymorphisms in FABP4 and meat quality and lipid metabolism gene expression in Yanbian yellow cattle.
PloS one | 2020-01-01 | PMID 32579617
Yin Bao-Zhen, Fang Jia-Chen, Zhang Jia-Su and 5 more
Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies.
Ophthalmic surgery, lasers & imaging retina | 2020-06-01 | PMID 32579692
McGowan Heather, Madreperla Olivia R, Snyder Alexandra L and 1 more
A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy.
Ophthalmic surgery, lasers & imaging retina | 2020-06-01 | PMID 32579694
Lee Chang Sup, Leys Monique
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Human mutation | 2020-09-01 | PMID 32579715
Abdelfattah Fatima, Kariminejad Ariana, Kahlert Anne-Karin and 26 more
Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers.
Human mutation | 2020-09-01 | PMID 32579758
Ralf Arwin, Lubach Delano, Kousouri Nefeli and 12 more
Tumor immune microenvironment and immune checkpoint inhibitors in esophageal squamous cell carcinoma.
Cancer science | 2020-09-01 | PMID 32579769
Baba Yoshifumi, Nomoto Daichi, Okadome Kazuo and 5 more
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Human mutation | 2020-08-01 | PMID 32579787
Tunca Ceren, Şeker Tuncay, Akçimen Fulya and 40 more
Exploring Catalysis Specificity of Phytoene Dehydrogenase CrtI in Carotenoid Synthesis.
ACS synthetic biology | 2020-07-17 | PMID 32579850
Liang Nan, Chen Chen, Wang Ying and 4 more
A massive systematic infection of Encephalitozoon cuniculi genotype III in mice does not cause clinical signs.
Microbes and infection | 2020-10-01 | PMID 32579904
Sak Bohumil, Brdíčková Klára, Holubová Nikola and 3 more
Mutations in genes cnc or dKeap1 modulate stress resistance and metabolic processes in Drosophila melanogaster.
Comparative biochemistry and physiology. Part A, Molecular & integrative physiology | 2020-10-01 | PMID 32579905
Bayliak Maria M, Demianchuk Oleh I, Gospodaryov Dmytro V and 4 more