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601
Distribution and Characteristics of Bacteria Isolated from Cystic Fibrosis Patients with Pulmonary Exacerbation
Published 2022-01-01“…Cystic fibrosis (CF) is an inherited recessive disorder characterized by recurrent and persistent pulmonary infections, resulting in lung function deterioration and early mortality. …”
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602
Presentación inusual de la enfermedad de Pott: reporte de un caso
Published 2025-01-01“…A CT-scan revealed other abscesses: on the right cardiophrenic recess[Figure-2] and prevertebral at L4-L5 level[Figure-3]. …”
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603
Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study
Published 2021-01-01“…Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. …”
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604
Immunoglobulin G4-related disease, constitutional symptoms, human leukocyte antigen b27 positivity, and sacroiliitis
Published 2020-01-01“…Detailed investigations including a whole-body positron-emission tomography (PET) scan that showed hypermetabolic soft tissue thickening in the periaortic recess and at the base of the heart encasing root and ascending aorta. …”
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605
Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing
Published 2025-01-01“…Menkes disease is a recessive X-chromosome-linked hereditary syndrome in humans, caused by defective copper metabolism due to mutations in the <i>ATP7A</i> gene, which encodes a copper transport protein. …”
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606
Myocardial Infarction and AGT p.Thr174Met Polymorphism: A Meta-Analysis of 7657 Subjects
Published 2021-01-01“…A significant association between AGT p.Thr174Met polymorphism and MI was found under recessive (OR: 2.26, 95% CI: 1.35-3.77, P=0.002), dominant (OR: 1.131, 95% CI: 1.016-1.260, P=0.024), codominant (OR: 2.198, 95% CI: 1.334-3.621, P=0.002), and additive (OR: 1.363, 95% CI: 1.132-1.641, P=0.001) genetic models. …”
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607
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review
Published 2022-01-01“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. …”
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608
Harlequin Ichthyosis: Case Series
Published 2024-04-01“… Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. …”
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609
The Legal System of Gene Therapy Contracts
Published 2024-12-01“…Most genetic diseases are caused by defective recessive genes, which can be replaced with healthy genes that perform the same function as the defective ones. …”
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610
<i>Allosaurus europaeus</i> (Theropoda: Allosauroidea) Revisited and Taxonomy of the Genus
Published 2024-12-01“…A detailed cranial description and specimen-based phylogeny were performed and resolved many of the open questions: (1) The diversity of <i>Allosaurus</i> is limited to three named species: <i>A. fragilis</i>, <i>A. europaeus</i>, and <i>A. jimmadseni</i>. (2) Nine autapomorphies were found in <i>A. europaeus</i>, confirming the validity of the species. (3) Phylogenetic analyses place both Portuguese specimens in the genus <i>Allosaurus</i>, based on the following synapomorphies: jugal bone lateral view, relative heights of quadratojugal prongs, the dorsal prong is equal in height, the jugal bone in lateral view shows shallow accessory pneumatization of the antorbital fossa, the palatine pneumatic recess shape is small, and lacrimal horn morphology has a triangular horn. (4) The Andrés specimen is placed with the <i>A. europaeus</i> and they are considered here to be the same species, which is paleo-geographically and biochronologically congruent. (5) <i>A. europaeus</i> and <i>A. jimmadseni</i> are sister taxa and closer to each other than to <i>A. fragilis</i>. …”
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611
Stiffness Calculation and Influence Factor Analysis of Spur Gear Pair Considering Time-varying Friction
Published 2019-09-01“…The results show that the time-varying friction coefficient changes suddenly in the single-to-double tooth alternating meshing zone, and tend to zero at the pitch point; the effect of friction makes the stiffness of single teeth increase at the approach process, and decreases during the recess process; the constant friction force makes the meshing stiffness change suddenly at the pitch point; the time-varying friction force makes the meshing stiffness change suddenly at the single-to-double tooth alternating meshing zone, and the change law is consistent with the non-friction situation at the pitch point; the meshing stiffness of gear pair increases with the increase of modulus and tooth width, and decreases with the increase of pressure angle; the variation of meshing stiffness increases with the increase of tooth surface roughness; and decreases with the increase of input torque.…”
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612
TWO DESIGNS OF THE ELECTROMECHANICAL BRAKE EMBEDDED INTO AN ASYNCHRONOUS MOTOR
Published 2016-12-01“…The solution to this problem is the use of asynchronous motor with recessed combo braking device. However, for some mechanisms that do not require a smooth stop of the motor shaft and that have a speed of rotation of the motor shaft less than 1500 rpm, more simple and cheap solution would be the use of an electromechanical braking device with an air gap compensation. …”
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613
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Published 2017-01-01“…Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. …”
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614
Reflective perspectives of residence heads’ experiences and responses during COVID-19 at a Free State university, South Africa
Published 2024-07-01“…When the national lockdown was announced on 23 March 2020, some students were already in recess and had vacated their residences. Students that had remained were given 72 hours to vacate their residences. …”
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615
Drug repurposing screen for the rare disease ataxia-telangiectasia
Published 2025-01-01“…Ataxia Telangiectasia (A-T) is a rare, autosomal recessive genetic disorder characterized by a variety of symptoms, including progressive neurodegeneration, telangiectasia, immunodeficiency, and an increased susceptibility to cancer. …”
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616
Association between BAFF gene polymorphism and systemic lupus erythematosus: a meta-analysis
Published 2024-12-01“…A statistically significant correlation is observed in the recessive model (OR = 0.64, 95% CI: 0.50–0.82, P < 0.001), as well as in the allelic model (OR = 0.63, 95% CI: 0.42–0.95, P = 0.026). …”
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617
The problem of the oil-contaminated geo-environment and ways to solve it
Published 2024-08-01“…Taking into account the importance of the problem, the authors developed and introduced into construction practice a set of technologies that allow for the removal of hydrocarbon-containing pollutants in the territories of reconstructed and liquidated facilities of the oil complex, without extracting soils from recesses.…”
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618
The Impact of Exercise Play on the Biomechanical Characteristics of Single-Leg Jumping in 5- to 6-Year-Old Preschool Children
Published 2025-01-01“…The experimental group underwent a 12-week intervention, with self-designed exercise games conducted three times a week for 30 min each session, while the control group only participated in regular kindergarten recess activities and physical education classes. …”
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619
Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms
Published 2024-01-01“…Cystic fibrosis (CF) is a genetic monogenic disorder inherited in an autosomal recessive manner, marked by persistent airway infections in the endobronchial region. …”
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620
Genetic Variations in Nucleotide Excision Repair Pathway Genes and Risk of Allergic Rhinitis
Published 2022-01-01“…Three independent SNPs were identified as significantly associated with AR susceptibility, including ERCC1 rs2298881 C>A (recessive model: adjusted odds ratios OR=0.30, 95%confidence interval CI=0.18–0.50, P<0.0001), ERCC1 rs11615 G>A (dominant model: adjusted OR=1.44, 95%CI=1.04–2.01, P=0.030), and XPC rs2228001 A>C (dominant model: adjusted OR=0.68, 95%CI=0.49–0.95, P=0.024). …”
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