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541
The measurement reliability and equivalence of print versus online versions of the Youth Activity Profile.
Published 2025-01-01“…The two versions were statistically equivalent for most YAP items except for recess.<h4>Conclusion</h4>The online YAP appears to be a reliable assessment of physical activity and sedentary behavior in youth populations.…”
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542
Neurosurgical aspects of marble bone disease: treatment modalities and outcome
Published 2025-02-01“…Osteopetrosis has 3 types of genetic inheritance either malignant autosomal recessive (ARO) which occur in childhood, intermediate ARO which occur in adolescence, and benign autosomal dominant osteopetrosis which occur in adults. …”
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543
Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia
Published 2023-11-01“…<strong>Foundation:</strong> hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. …”
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544
High-Performance Work System and Employee Counterproductive Work Behavior: The Perspective of Employee Perception
Published 2021-01-01“…Employee counterproductive work behavior (ECWB) in the workplace has caused serious harm to the organization, and its recessive occurrence creates difficulty for the organization to guard against it. …”
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545
Pyruvate Kinase Deficiency Causing Priapism
Published 2023-01-01“…Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. …”
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546
Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear
Published 2018-01-01“…Myo3a is expressed in cochlear hair cells and retinal cells and is responsible for human recessive hereditary nonsyndromic deafness (DFNB30). …”
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547
Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report
Published 2025-01-01“…Recently, transient receptor potential vanilloid 3 (TRPV3) mutations associated with autosomal dominant or recessive OS have been reported. Here we describe a classically OS case with definitive diagnosis of OS based on clinical features and a genetic assay. …”
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548
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T
Published 2015-01-01“…Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation. …”
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549
Composition of Trace Metals in Dust Samples Collected from Selected High Schools in Pretoria, South Africa
Published 2016-01-01“…Thirty-two dust samples were collected from inside and outside the classrooms, where learners often stay during recess period. The dust samples were analysed for trace metal concentrations using Inductively Coupled Plasma-Mass Spectrometry (ICP-MS). …”
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550
Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells
Published 2017-01-01“…Cystic fibrosis (CF) is the most common autosomal genetic recessive disease caused by mutations of gene encoding for the cystic fibrosis transmembrane conductance regulator. …”
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551
Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters
Published 2020-01-01“…Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings, and/or ATP7B genetic testing are required to diagnose Wilson’s disease. …”
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552
Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome
Published 2010-01-01“…Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. …”
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553
Immediate Patient Satisfaction with Dental Esthetics After Endodontic and Prosthodontic Treatment of Dental Dyschromia
Published 2025-01-01“…The primary reasons for dissatisfaction included darker restoration color, chipping, and gingival recessions. <b>Conclusions:</b> Combined endodontic and prosthetic treatments, utilizing lithium disilicate and zirconium oxide restorations, achieved high levels of patient satisfaction. …”
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554
Computed Tomographic Tenography of Normal Equine Digital Flexor Tendon Sheath: An Ex Vivo Study
Published 2015-01-01“…Computed tomographic tenography of digital flexor tendon sheaths could visualize the following main tendon structures for every forelimb in contrast-enhanced images as low densities surrounded by high densities: superficial digital flexor tendon, deep digital flexor tendon, manica flexoria, mesotendons, and synovial recess. Results of this study suggest that computed tomographic tenography can be used with accuracy and sensitivity to evaluate the common disorders of the equine digital flexor tendon sheath and the intrathecal structures.…”
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555
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Published 2023-01-01“…EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. …”
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556
Le sanctuaire gallo-romain de Drevant (Cher) : état des connaissances et nouvelle approche archéologique des façades sud et est
Published 2011-12-01“…This construction is quickly with a second wall recessed from the Eastern façade leading to the creation of a covered gallery (porticus). …”
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557
Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces
Published 2016-01-01“…Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3- exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. …”
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558
The genetic control of the day- neutral habit in populations of Fragaria vesca (Rosaceae) in Western Siberia
Published 2015-07-01“…Segregation in the progeny of self-fertilized plants from this population evidences monogenic control of day neutrality with a recessive type of inheritance. Its nature is similar to that in Alpine Fragaria vesca populations.…”
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559
Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model
Published 2012-01-01“…Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associated with congenital hepatic fibrosis (CHF). …”
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560
Allelic diversity of the <i>Vrn</i> genes and the control of growth habit and earliness in wheat
Published 2023-12-01“…The effects of mutations (polymorphisms) in the recessive vrn genes on vernalization requirement in winter wheats are considered, and this trait was formalized. …”
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