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541
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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542
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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543
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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544
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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545
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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546
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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547
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548
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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549
Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies
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550
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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551
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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552
Les préposition de To et For : grammaticalisation et subjectivation
Published 2008-12-01“…The latter is defined as a process of semantic expansion resulting from the appropriation by speakers of linguistic tools inherited from earlier generations. Prepositional TO is analyzed as expressing telicity, whereas FOR, which locates the referent of its complement in a separate space, expresses cause and goal. …”
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553
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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554
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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555
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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556
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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557
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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558
CYTOLOGICAL AND GENETIC CHARACTERIZATION OF A NEW MUTANT OF VEGETABLE PEPPER CAPSICUM ANNUUM VAR. ANNUUM L.
Published 2015-01-01“…Tentative cytologic and genetic characterization shows that both were dominant and were controlled by two separately inherited single factors. The mutation manifested at the cotyledon stage is lethal, and the other belongs to basic chromosome mutations, causing a reduced viability of the homozygote. …”
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559
Las medidas corporales en los rituales mexicanos
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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560
The Right Tone for the Hardest Moments: Louisa May Alcott’s New York Stories of Child Labor and Urban Benevolence in the Mid-1870s
Published 2020-10-01“…Devoid of moralism, Alcott’s tales also carry strong biographical accents, from her own experience of poverty to her own temperance journey and, most importantly, the humanistic spirit which she inherited from her parents’ own charity efforts.…”
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