Search results for " Aki"

showing 5 items of 5 documents

Correction: The genomic and clinical landscape of fetal akinesia

2020

Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Fetal akinesiabusiness.industryPublished ErratumHardware_INTEGRATEDCIRCUITSMEDLINEMedicineComputingMilieux_LEGALASPECTSOFCOMPUTINGComputerApplications_COMPUTERSINOTHERSYSTEMSHardware_PERFORMANCEANDRELIABILITYBioinformaticsbusinessGeneralLiterature_MISCELLANEOUSGenetics (clinical)Genetics in Medicine
researchProduct

Discoursing Finnish rock : articulations of identities in the Saimaa-ilmiö rock documentary

2010

Kaurismäki MikaHassisen kone (yhtye)risteilyttulkintaKriittinen diskurssianalyysisuomalaisuushistoriaKaurismäki AkielokuvatmusiikkielokuvatmusiikintutkimusSuominuorisokulttuurikansallismaisemakansankulttuuriJuice Leskinen Slam (yhtye)yhtyeetdokumenttielokuvatmuusikotvastakulttuuritluontoarvotosakulttuuritmieskulttuuriSaimaa-ilmiö (elokuva)rockEppu Normaali (yhtye)ilmaisuesittäminenkansallinen identiteettipopulaarikulttuuripopulaarimusiikkiSaimaasukupuolisuuskulttuurintutkimuskiertueetalkoholikulttuuri
researchProduct

The genomic and clinical landscape of fetal akinesia

2020

International audience; Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.Methods: In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA).Results: We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative pathogenic variants in eight cases including nine novel variants. Our work identified 14 novel disease-gene associations for fetal akinesia: ADSSL1, ASAH1, ASPM, ATP2B3, EARS2, FBLN1, PRG4, PRICKLE1, ROR2, SETBP1…

MaleCandidate geneMyopathyVARIANTSFetal akinesiaMESH: Ryanodine Receptor Calcium Release Channel0302 clinical medicineMESH: ChildGuanine Nucleotide Exchange FactorsMESH: Guanine Nucleotide Exchange FactorsExomeCopy-number variationChildExomeMESH: High-Throughput Nucleotide SequencingGenetics (clinical)GeneticsArthrogryposisArthrogryposis0303 health sciencesMESH: Infant NewbornMESH: Genetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingRNA-Binding ProteinsMESH: Infant3. Good healthFetal DiseasesCopy-number variationMESH: Fetal DiseasesMESH: Young AdultChild PreschoolASAH1FemaleMESH: DNA Copy Number Variationsmedicine.symptomAdultGENETICSAdolescentDNA Copy Number VariationsMESH: Trans-ActivatorsMESH: ArthrogryposisBiologyASPMYoung Adult03 medical and health sciencesMuscular DiseasesmedicineHumansGenetic Predisposition to DiseaseGene030304 developmental biologyMESH: Adolescent[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/PediatricsMESH: HumansMUTATIONSMESH: Child PreschoolInfant NewbornMESH: Muscular DiseasesInfantNEMALINE MYOPATHYRyanodine Receptor Calcium Release ChannelMESH: Adultmedicine.diseaseCongenital myopathyMESH: MaleMESH: RNA-Binding Proteins[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsDISTAL ARTHROGRYPOSISTrans-ActivatorsMESH: Female030217 neurology & neurosurgery
researchProduct

Outcomes After Chevron Osteotomy with and Without Additional Akin Osteotomy: A Retrospective Comparative Study

2023

Abstract Background Chevron osteotomy is one of the most common approaches to hallux valgus corrective surgery. This procedure is often combined with Akin osteotomy of the proximal phalanx of the hallux. There are no definitive guidelines specifying the indications for a given osteotomy technique nor data on postoperative loss of correction or the effect of the type of first-ray surgery on the development of adjacent-joint arthritis. The aim of this study was to assess radiographic treatment outcomes via chevron osteotomy with and without Akin osteotomy. Methods The study evaluated 117 patients treated in the period 2016–2019. Ninety-nine of those patients underwent distal chevron osteotomy…

Orthopedics and Sports MedicineRadiographic · Hallux valgus · Adjacent-joint arthritis · Chevron osteotomy · Akin osteotomy · ForefootIndian Journal of Orthopaedics
researchProduct

Five Kurosawas and a (de)construction of the Orient

2020

In 1959, UNESCO published a catalogue of Eastern films suitable for Western audiences, titled ‘Orient. A Survey of Films Produced in Countries of Arab and Asian Culture’. The aim of the catalogue was to familiarise Western audiences with Eastern cultures through cinema. The catalogue lists seven general characteristics of Eastern cinema to distinguish it from its Western counterpart and to provide ready-made interpretations of the essential characteristics of the Eastern world. Of the 139 feature films listed in the catalogue, five were directed by Kurosawa Akira – the biggest number of films by a single director. This article provides an analysis of the five Kurosawa films within the frame…

UNESCOorientalismiCold WaritäcinemaKurosawa Akirathe Eastkylmä sotaelokuvat
researchProduct