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241
Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance
Published 2018-01-01“…The identification and validation of such modifiers leading to reduced penetrance or increased susceptibility in the case of heterozygous carriers of recessive mutations are relevant for a better understanding of mechanisms contributing to disease onset. …”
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242
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
Published 2025-02-01“…Both autosomal dominant and recessive inheritance has been reported with variable phenotype. …”
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243
Clinical, genetic aspects and molecular pathogenesis of osteopetrosis
Published 2023-07-01“…The disease can be autosomal recessive, autosomal dominant, X-linked or sporadic. …”
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244
Prediction of Optimal Daily Step Count Achievement from Segmented School Physical Activity
Published 2015-01-01“…The school segment that related in strongest way to a student achieving 6,000 steps during school hours was afternoon recess (OR = 40.03; P<0.001) and for achieving 12,000 steps for the entire day was lunch recess (OR = 5.03; P<0.001). …”
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245
Genetic control of scald resistance in barley landraces
Published 2016-12-01“…Accessions k-15868 and k-3481 possess two complementary recessive genes for scald resistance, k-18989 has two recessive genes, and k-3307 carries one recessive gene for pathogen resistance. …”
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246
Physical Activity Behavior in Swiss Secondary School Students: A Segmented Analysis
Published 2025-01-01“…During school hours, the proportion of time allocated to MVPA varies significantly across segments (PE = 31.2%, recess = 18.46%, classroom time = 5.45%; p < 0.001), falling well below the recommended targets for PE (50% MVPA) and recess (40% MVPA). …”
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247
Symbiotic nitrogen fixation in legumes as a genetic and selection trait
Published 2015-07-01“…From the large set, supernodulating (proved to be recessive) and dominant hypernodulating types of symbiotic mutants were chosen for breeding programs. …”
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248
Investigation of the Low-Temperature Behavior of FD-SOI MOSFETs in the Saturation Regime Using Y and Z Functions
Published 2014-01-01“…Ultrathin body (UTB) and gate recessed channel (GRC) devices were fabricated simultaneously on the same silicon wafer through a selective “gate recessed” process. …”
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249
Alpha II Antiplasmin Deficiency Complicating Pregnancy: A Case Report
Published 2011-01-01“…It is inherited in an autosomal recessive fashion. Case. 30-year-old Gravida 1, Para 0, presented for prenatal care with her first and subsequently her second pregnancy. …”
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250
Quantifying the Robustness of Countries’ Competitiveness by Network-Based Methods
Published 2018-01-01“…The robustness characterizes the stability of countries’ competitiveness against economic recessions. The experiments in the international trade networks show that FCM could characterize the robustness better than MR. …”
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251
GENETIC CONTROL OF FERTILITY RESTORATION IN CMS LINES OF FLAX (<i>LINUM USITATISSIMUM</i>)
Published 2018-06-01“…Other recessive (alternative) alleles of pollen fertility restoration genes rfo6, rfo6-2, rfo6-3, rfo7 do not affect the corolla’s shape.…”
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252
Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family
Published 2024-05-01“…Frank–Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. …”
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253
The Associations between VEGF Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Meta-Analysis of 11 Case-Control Studies
Published 2014-01-01“…A significant relationship between VEGF+936C/T (rs3025039) polymorphism and DR was found in a recessive model (OR = 3.19, 95% CI = 1.20–8.41, and P(z)=0.01) in Asian and overall populations, while a significant association was also found between –460T/C (rs833061) polymorphism and DR risk under a recessive model (OR = 2.12, 95% CI = 1.12–4.01, and P(z)=0.02). …”
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254
Association of the Interleukin-10-592C/A Polymorphism and Cervical Cancer Risk: A Meta-Analysis
Published 2022-01-01“…Regarding ethnicity, a significant association of the -592C/A polymorphism of the IL-10 gene was linked to an elevated risk of cervical cancer for all genetic models (recessive, dominant, and additive) in the Asian populations and for the recessive and additive models in Caucasians with P<0.05. …”
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255
Feasibility and Safety of the C1 “Zero Angle” Screw: A Novel “In–Out–In” Technique for Atlantoaxial Dislocation
Published 2025-02-01“…Radiographic measurements included (A) the distance from the recess to the transverse foramen (RTF); (B) the tricortical screw zone (TSZ); (C) the lateral mass height along the C1ZAS trajectory (LMH); (D) the screw length of C1ZAS (ZSL); (E) the screw length of C1 PS (PSL); (F) the distances from the recess to the dura (RD); (G) the distance from the recess to the spinal cord (RSC); (H) the distance from the inner of lateral mass to the spinal cord (ILMSC). …”
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256
Hepatocellular Adenoma in a Patient with Ornithine Transcarbamylase Deficiency
Published 2019-01-01“…Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that leads to hyperammonemia and liver damage. …”
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257
Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report
Published 2025-01-01“…ABSTRACT This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. …”
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258
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Published 2018-01-01“…Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. …”
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259
Thermoacoustic Stability Boundaries in the Model Combustion Chamber with a Gas-Centered Swirl Coaxial Injector
Published 2019-01-01“…First, flame shapes induced by the injector are analyzed for various recess lengths from experimental results. The spreading angle and flame size are reduced as the recess length increases. …”
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260
Associations between Vascular Endothelial Growth Factor Gene Polymorphisms and Different Types of Diabetic Retinopathy Susceptibility: A Systematic Review and Meta-Analysis
Published 2021-01-01“…There were significant associations between rs2010963 and NPDR in Asian (dominant model: OR=1.29, 95%CI=1.04−1.60); and rs2010963 is associated with PDR in total population (dominant model: OR=1.20, 95%CI=1.03−1.41), either Asian (recessive model: OR=1.57, 95%CI=1.04−2.35) or Caucasian (recessive model: OR=1.83, 95%CI=1.28−2.63). …”
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