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701
Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference
Published 2025-02-01“…Heritable thoracic aortic disease is caused by dominantly inherited mutations in more than a dozen genes, including TGFB2 mutations that cause Loeys-Dietz syndrome. …”
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702
Treatment of arrhythmogenic right ventricular cardiomyopathy (dysplasia)
Published 2016-03-01“…Arrhythmogenic right ventricular cardiomyopathy (dysplasia) is an inheritable heart muscle disease predisposing to ventricular arrhythmias and increasing risk of sudden cardiac death. …”
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703
Novel adaptive duplex technique adapted to future mobile communication system
Published 2007-01-01“…The concept of adaptive duplex was introduced.Based on it,a novel adaptive duplex transmission technique-asymmetric frequency division duplex(AFDD) was proposed,which considers the asymmetric characteristics of future communications system both in service demand and electromagnetic radiation effects.AFDD has the advantage inheriting from FDD;furthermore,it can allocate frequency resources in downlink and uplink dynamically like TDD which increases the usage efficiency of radio resources.Applying AFDD to CDMA communication system,it is proved that AFDD improves that system’s performance compared with FDD.…”
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704
La fabrique du musée d’art marocain : L’œuvre de Prosper Ricard
Published 2018-12-01“…The purpose of this article is thus to analyse the emergence of an original museum model inherited from the protection measures of native arts initiated in Algeria. aiming eventually to re-consider the concept of “colonial museum”.…”
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705
Agenesis of the Gallbladder in Monozygotic Twin Sisters
Published 2016-01-01“…Several reports suggest that this congenital defect is inherited but that supposition remains controversial. …”
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706
Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome
Published 2010-01-01“…The recent observation that the GABAA receptor is underexpressed in the fragile X syndrome, an inherited mental retardation disorder, therefore raised hopes for targeted therapy of the disorder. …”
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707
Mirror symmetry for concavex vector bundles on projective spaces
Published 2003-01-01“…We show that under appropriate restrictions, the generalized Gromov-Witten invariants of X inherited from Y can be calculated via a modified Gromov-Witten theory on ℙs. …”
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708
Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature
Published 2018-01-01“…We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.…”
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709
Challenges in managing osteogenesis imperfecta in a resource-limited setting: a case report
Published 2025-01-01“…Abstract Introduction Osteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. …”
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710
An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam
Published 2022-01-01“…By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. …”
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711
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712
Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I
Published 2025-01-01“…Stickler syndrome type I, which is inherited in an autosomal dominant manner, is specifically linked to mutations in the COL2A1 gene. …”
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713
Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies
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714
Certain Death: Mike Flanagan’s Gothic Antidote to Traumatic Memory and Other Enlightenment Hang-Overs in <i>Doctor Sleep</i>
Published 2025-01-01“…I support this argument by closely reading how Flanagan’s filmic tools of domestic metaphor, uncanny casting, and repurposed sets from Kubrick’s <i>The Shining</i> not only tell how to exorcise the inherited stills of the Overlook Hotel but also show viewers how to do so. …”
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715
A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms
Published 2021-03-01“…There are more than 30 inherited human disorders connected with repeat expansion (myotonic dystrophy type I, Huntington’s disease, Fragile X syndrome). …”
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716
Habiter un quartier RDP
Published 2024-03-01“…Through housing and socio-spatial networks inherited from street committees, Delft South may constitute a complex peripheral space with the creation of specific racially mixed neighborhoods.…”
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717
Les mesures corporelles dans les rituels mexicains
Published 2014-07-01“…This article offers a comparison between the Nahua system of measurements inherited from the Conquest period and the Tlapanec system observed today. …”
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718
La aristocracia altomedieval: legados historiográficos y tendencias de investigación
Published 2014-01-01“…This review will show that although the historiographical tradition inaugurated by Marc Bloch and Georges Duby actually inherited the topics and schemes from their predecessors –which led them to go deeply into the study of classical questions such as the transformations of its family structures–, in the last decades a number of new problems on medieval aristocracy emerged, as well as new frameworks of interpretation and methodological tools that are renewing and revitalizing these studies.…”
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719
Coiflet Wavelet-Homotopy Solution of Channel Flow due to Orthogonally Moving Porous Walls Governed by the Navier–Stokes Equations
Published 2020-01-01“…A newly computational method based on the Coiflet wavelet and homotopy analysis method is developed, which inherits the great nonlinear treatment of the homotopy analysis technique and the local high-precision capability of the wavelet approach, to give solutions to the classic problem of channel flow with moving walls. …”
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720
Un palimpsesto urbano: de la Puerta del Sol al 15-M
Published 2022-07-01“…The movement of the «indignados» in 2011 is emblematic of this phenomenon inherited from the audiovisual traces that have constituted a palimpsest of the imaginary of the square, itself synecdoche of the city. …”
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