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521
A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity
Published 2012-01-01“…Both recessive and dominant patterns of inheritance have been suggested. We studied a large family with a 38-year-old asymptomatic HCM-affected male referred because of a murmur. …”
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522
Pangenome mining of the Streptomyces genus redefines species’ biosynthetic potential
Published 2025-01-01“…This synteny suggests that vertical inheritance is a major factor in the diversification of BGCs. …”
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523
Development of large-fruited bird cherry cultivars on the basis of wild species for northern and eastern regions of Russia
Published 2021-04-01“…It can be explained by the polygenic nature of fruit weight inheritance. The samples with the largest fruits had an average fruit weight of 1.4–1.5 g and maximum weight of 1.8–1.9 g. …”
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524
Study of Phenotypic and Molecular Approaches of Potyvirus plumpoxi Resistance Evaluation in New Czech Apricot Hybrids
Published 2025-01-01“…However, discrepancies in hybrid resistance evaluation highlight the complexity of inheritance and the potential errors in genotyping. …”
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525
A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases
Published 2025-01-01“…The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. …”
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526
Clinical management of female patients with Fabry disease based on expert consensus
Published 2025-01-01“…Most females are hemizygous and the X-linked inheritance is associated with variable X-activation pattern and residual enzymatic activity. …”
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527
Autism spectrum disorder: definition, global epidemiology, prevalence in Poland and worldwide, and heredity
Published 2025-02-01“…We selected the articles according to keywords such as “ASD”, “autism”, “history of autism”, “epidemiology”, “inheritance”, “genetic”. The articles we used were published from 1943, mainly 2019-2024. …”
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528
The Paradox of Indonesia Cyberspace Policy and Cooperation: Neoclassical Realism Perspective
Published 2022-09-01“…The Indonesian government still faced instability at the domestic level to identify the category of threats toward the regime due to the inheritance of the authoritarian regime government model it experienced before. …”
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529
Recessive transition of rural residential land use from the perspective of value co-creation: A case study of Yiwu City, Zhejiang
Published 2025-01-01“…[Results] (1) Value co-creation of ural residential land follows the process model of “value consensus-value execution-value win-win” and the operational paradigm of “subject interaction - capacity embedding - benefit sharing”, driving the “element integration - structure reorganization - function optimization” of rural residential land use system, resulting in the dynamic evolution of diverse values such as residential security, economic property, production and operation, ecological protection, and cultural inheritance, and achieving the recessive rural residential land use transition. (2) Yiwu’s practice path of guiding multiple stakeholders to interact collaboratively, constructing “value consensus” for rural residential land, driving with multiple forces, and implementing “value execution” for rural residential land through multi-dimensional rule interaction is a successful model for realizing the recessive rural residential land use transformation through value co-creation. (3) Through the practice of value co-creation, Yiwu has achieved a transformation of the functional value of rural residential land from residential security orientation to economic property orientation, and then to a comprehensive and coordinated approach that encompasses residential security, production and operation, economic assets, and ecological protection, etc. …”
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530
Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family
Published 2024-05-01“…Family pedigree shows an autosomal recessive mode of inheritance. DNA was extracted from the blood samples of six members of the family. …”
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531
Fetal Tetra-Amelia Birth: A Case Report
Published 2024-01-01“…It occurs secondary to genetic aberration or is sporadic. Genetic inheritance of tetra-amelia may present as autosomal dominance, autosomal recessive, or X-linked recessive. …”
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532
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population
Published 2025-01-01“…Consanguinity can impact the detection of recessively inherited genes. Here, we report families with PAI in a consanguineous population of Saudi Arabia. …”
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533
Response of Pedunculate Oak (<i>Quercus robur</i> L.) to Adverse Environmental Conditions in Genetic and Dendrochronological Studies
Published 2025-01-01“…Genetic studies further complement this by uncovering adaptive genetic diversity and inheritance patterns. Identifying genetic markers associated with stress tolerance enables forest managers to prioritize the conservation of populations with higher adaptive potential. …”
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534
Modern classification and molecular-genetic aspects of osteogenesis imperfecta
Published 2020-04-01“…Osteogenesis imperfecta occurs in both men and women, the disease is inherited in both autosomal dominant and autosomal recessive types, there are sporadic cases of the disease due to de novomutations, as well as X-linked forms. …”
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535
Identifying genetic susceptibility loci associated with human coronary artery disease.
Published 2025-01-01“…This discovery enhances the understanding about genetic variants of CAD and also facilitates early detection, targeted interventions, pattern of inheritance in population. This ultimately improving patient outcomes and guiding future research to highlight its significance as a potential diagnostic marker.…”
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536
Exploration of the molecular mechanism behind a novel natural genic male-sterile mutation of 1205A in Brassica napus
Published 2025-02-01“…Cytological investigations reveal that the mutation occurs at the early microspore stage, resulting in premature degradation of pollen. Through inheritance analysis, linkage mapping, and bulked-segregant analysis sequencing (BSA-Seq), a single gene locus, designated Bna1205ams1, was identified within the QTL region on chrC03 (15.36–18.90 Mb). …”
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537
An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
Published 2025-01-01“…TT + CC) and Allelic (C vs. T) inheritance models increased T2DM risk by 2.81, 2.94, 1.62, and 2.20 folds, respectively. …”
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538
ADVERSE PREGNANCY OUTCOMES IN SICKLE CELL TRAIT: A PROSPECTIVE COHORT STUDY EVALUATING CLINICAL AND HAEMATOLOGICAL PARAMETERS IN POSTPARTUM MOTHERS AND NEW-BORNS.
Published 2022-12-01“… Abstract – Sickle cell trait (SCT) is a condition caused by the inheritance of a single allele of the abnormal haemoglobin beta gene, HbS. …”
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539
Toward the calibration of 2D thermomechanical simulations of magma poor passive continental margins: method, validation and case example
Published 2024-05-01“…Acknowledging structural inheritance as a form of kinematic forcing in the models, and recognizing the challenge of anticipating and identifying all inherited geological structures present before rifting, a new modeling approach was devised. …”
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540
Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings
Published 2025-01-01“…Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance. Conclusions: This case expands the clinical range of ZNF711 variants by highlighting epilepsy as a potential comorbidity and suggesting other possible causal candidates for generalized epilepsy. …”
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