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| Open AccessInsights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene
- Chin-Ju Hu
- , Ying-Chang Lu
- & Chen-Chi Wu
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| Open AccessNR4A2 expression is not altered in placentas from cases of growth restriction or preeclampsia, but is reduced in hypoxic cytotrophoblast
- Natasha de Alwis
- , Sally Beard
- & Natalie J. Hannan
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| Open AccessPolymorphism of the ITGAM gene (rs7193943) and bioelectric impedance analysis as potential predictors of cachexia in chronic heart failure
- Grzegorz Sobieszek
- , Radosław Mlak
- & Teresa Małecka-Massalska
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| Open AccessA genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population
- Yasuo Takahashi
- , Keiko Yamazaki
- & Satoshi Asai
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| Open AccessReproducibility in the UK biobank of genome-wide significant signals discovered in earlier genome-wide association studies
- Jack W. O’Sullivan
- & John P. A. Ioannidis
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| Open AccessPIGG defines the Emm blood group system
- William J. Lane
- , Judith Aeschlimann
- & Connie M. Westhoff
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| Open AccessGenetic association of FKBP5 with trait resilience in Korean male patients with alcohol use disorder
- Chun Il Park
- , Hae Won Kim
- & Se Joo Kim
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| Open AccessPleiotropic effects between cardiovascular disease risk factors and measures of cognitive and physical function in long-lived adults
- Julia J. Yudkovicz
- , Ryan L. Minster
- & Allison L. Kuipers
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| Open AccessThe impact of CASR A990G polymorphism in response to cinacalcet treatment in hemodialysis patients with secondary hyperparathyroidism
- Jaruwan Ngamkam
- , Somratai Vadcharavivad
- & Paweena Susantitaphong
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| Open AccessA genome-wide association study of quantitative computed tomographic emphysema in Korean populations
- Sooim Sin
- , Hye-Mi Choi
- & Woo Jin Kim
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| Open AccessCell survival and DNA damage repair are promoted in the human blood thanatotranscriptome shortly after death
- Laura G. Antiga
- , Lode Sibbens
- & Bram Bekaert
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| Open AccessMapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis
- Praveen Hariharan
- & Josée Dupuis
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| Open AccessClinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
- Ana Latorre-Pellicer
- , Marta Gil-Salvador
- & Juan Pié
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| Open AccessDevelopment and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
- Cecília Silva
- , Nuno Maia
- & Paula Jorge
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| Open AccessStage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography
- Ruben Jauregui
- , Rait Parmann
- & Janet R. Sparrow
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| Open AccessVitamin D receptor, vitamin D binding protein and CYP27B1 single nucleotide polymorphisms and susceptibility to viral infections in infants
- Maria Zacharioudaki
- , Ippokratis Messaritakis
- & Emmanouil Galanakis
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| Open AccessThe effect of protein mutations on drug binding suggests ensuing personalised drug selection
- Shunzhou Wan
- , Deepak Kumar
- & Peter V. Coveney
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| Open AccessGenetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans
- Alice Corrêa Silva-Sousa
- , Guido Artemio Marañón-Vásquez
- & Christian Kirschneck
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| Open AccessMiR-124 and miR-506 are involved in the decline of protein C in children with extra-hepatic portal vein obstruction
- Jin-Shan Zhang
- & Long Li
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| Open AccessDNA degradation in human teeth exposed to thermal stress
- Diego Lozano-Peral
- , Leticia Rubio
- & Stella Martín-de-las-Heras
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| Open AccessGenetically determined hypoalbuminemia as a risk factor for hypertension: instrumental variable analysis
- Jong Wook Choi
- , Joon-Sung Park
- & Chang Hwa Lee
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| Open AccessFeasibility of predicting allele specific expression from DNA sequencing using machine learning
- Zhenhua Zhang
- , Freerk van Dijk
- & K Joeri van der Velde
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| Open AccessPredictive SNPs for β0-thalassemia/HbE disease severity
- Thongperm Munkongdee
- , Sissades Tongsima
- & Saovaros Svasti
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| Open AccessDynamic analysis of peripheral blood TCR β-chain CDR3 repertoire in occupational medicamentosa-like dermatitis due to trichloroethylene
- Dafeng Lin
- , Dianpeng Wang
- & Xianqing Huang
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| Open AccessPrevalence and risk factors of anxiety and depression among the community-dwelling elderly in Nay Pyi Taw Union Territory, Myanmar
- Su Myat Cho
- , Yu Mon Saw
- & Nobuyuki Hamajima
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| Open AccessComparison of blood pressure values and expression of genes associated with hypertension in children before and after hematopoietic cell transplantation
- Wojciech Strojny
- , Kinga Kwiecińska
- & Szymon Skoczeń
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| Open AccessInvestigation of triple-negative breast cancer risk alleles in an International African-enriched cohort
- Rachel Martini
- , Yalei Chen
- & Melissa B. Davis
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| Open AccessEffect of four ABCB1 genetic polymorphisms on the accumulation of darunavir in HEK293 recombinant cell lines
- Gabriel Stillemans
- , Happy Phanio Djokoto
- & Laure Elens
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| Open AccessAutomatic 3D dense phenotyping provides reliable and accurate shape quantification of the human mandible
- Pieter-Jan Verhelst
- , H. Matthews
- & H. Peeters
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| Open AccessPhysician-guided, hybrid genetic testing exerts promising effects on health-related behavior without compromising quality of life
- Severin Schricker
- , David Callau Monje
- & Moritz Schanz
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| Open AccessInduced pluripotent stem cells from subjects with Lesch-Nyhan disease
- Diane J. Sutcliffe
- , Ashok R. Dinasarapu
- & H. A. Jinnah
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| Open AccessExpression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities
- Aliaa M. Higazi
- , Hanan M. Kamel
- & Ashraf M. Osman
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| Open AccessGenetic association of ERAP1 and ERAP2 with eclampsia and preeclampsia in northeastern Brazilian women
- Leonardo Capistrano Ferreira
- , Carlos Eduardo Maia Gomes
- & Selma Maria Bezerra Jeronimo
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| Open AccessCardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
- Dana A. Muin
- , Martina Kollmann
- & Thomas Schwarzbraun
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| Open AccessThe TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease
- Megan C. Bakeberg
- , Madison E. Hoes
- & Ryan S. Anderton
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| Open AccessGenetic variation of RNF145 gene and blood lipid levels in Xinjiang population, China
- Jing Ming
- , Xian Wei
- & Yi-Tong Ma
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| Open AccessProfiling of three H3F3A-mutated and denosumab-treated giant cell tumors of bone points to diverging pathways during progression and malignant transformation
- Marc Hasenfratz
- , Kevin Mellert
- & Thomas F. E. Barth
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| Open AccessDAAM2 is elevated in the circulation and placenta in pregnancies complicated by fetal growth restriction and is regulated by hypoxia
- Natasha de Alwis
- , Sally Beard
- & Natalie J. Hannan
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| Open AccessRecursive ensemble feature selection provides a robust mRNA expression signature for myalgic encephalomyelitis/chronic fatigue syndrome
- Paula I. Metselaar
- , Lucero Mendoza-Maldonado
- & Alejandro Lopez-Rincon
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| Open AccessReplication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups
- Tewodros Gebresilase
- , Chris Finan
- & Fasil Tekola-Ayele
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| Open AccessSequence characterisation and novel insights into bovine mastitis-associated Streptococcus uberis in dairy herds
- Ben Vezina
- , Hulayyil Al-harbi
- & John I. Alawneh
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| Open AccessA longitudinal study over 40 years to study the metabolic syndrome as a risk factor for cardiovascular diseases
- Lars Lind
- , Johan Sundström
- & Erik Lampa
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| Open AccessHigh-fructose feeding does not induce steatosis or non-alcoholic fatty liver disease in pigs
- Nikolaj H. Schmidt
- , Pia Svendsen
- & Jacob Fog Bentzon
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| Open AccessGenetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
- Irene Perea-Romero
- , Gema Gordo
- & Carmen Ayuso
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| Open AccessSerum carotenoids and Pediatric Metabolic Index predict insulin sensitivity in Mexican American children
- Srinivas Mummidi
- , Vidya S. Farook
- & Jairam K. P. Vanamala
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| Open AccessIdentification of significantly mutated subnetworks in the breast cancer genome
- Rasif Ajwad
- , Michael Domaratzki
- & Pingzhao Hu
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| Open AccessFalse negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
- Jonas M. den Heijer
- , Arnoud Schmitz
- & Geert Jan Groeneveld
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| Open AccessPhenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
- Ine Strubbe
- , Caroline Van Cauwenbergh
- & Bart P. Leroy
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| Open AccessCCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs
- Leonardo Murgiano
- , Doreen Becker
- & Keiko Miyadera