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  1. 541

    The measurement reliability and equivalence of print versus online versions of the Youth Activity Profile. by Yang Bai, Philip M Dixon, Pedro F Saint-Maurice, Paul R Hibbing, Gabriella M McLoughlin, Michael Pereira da Silva, Gregory J Welk

    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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  2. 542

    Neurosurgical aspects of marble bone disease: treatment modalities and outcome by Mahmoud Mohammed Gamal, Roshdy Elkhayat, Hassan Mohammed Hassan

    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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  3. 543

    Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia by Iovana Fuentes Cortés, Beliany Pacheco Suárez, Dulce María Charón Savón

    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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  4. 544

    High-Performance Work System and Employee Counterproductive Work Behavior: The Perspective of Employee Perception by Ling Peng, Jiafu Su, Yupei Du, Muzi Li

    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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  5. 545

    Pyruvate Kinase Deficiency Causing Priapism by Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael

    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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  6. 546

    Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear by Peipei Li, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu, Jiangang Gao

    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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  7. 547

    Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

    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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  8. 548

    Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T by Holli M. Drendel, Jason E. Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai

    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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  9. 549

    Composition of Trace Metals in Dust Samples Collected from Selected High Schools in Pretoria, South Africa by J. O. Olowoyo, L. L. Mugivhisa, Z. G. Magoloi

    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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  10. 550
  11. 551

    Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters by Nebiyu Bekele, Frew Ewnetu, Tigest Hailu, Zerubabel Tegegne, Abilo Tadesse

    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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  12. 552

    Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome by Fuminori Tanabe, Hirotake Kasai, Michiko Morimoto, Shigeharu Oh, Hidetoshi Takada, Toshiro Hara, Masahiko Ito

    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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  13. 553

    Immediate Patient Satisfaction with Dental Esthetics After Endodontic and Prosthodontic Treatment of Dental Dyschromia by Adrian Jantea, Sorin Gheorghe Mihali, Dan Lolos, Anca Tudor, Roxana Oancea, Liliana Porojan

    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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  14. 554

    Computed Tomographic Tenography of Normal Equine Digital Flexor Tendon Sheath: An Ex Vivo Study by Luca Lacitignola, Pasquale De Luca, Alessandro Guarracino, Antonio Crovace

    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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  15. 555
  16. 556

    Le sanctuaire gallo-romain de Drevant (Cher) : état des connaissances et nouvelle approche archéologique des façades sud et est by Frédéric Méténier

    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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  17. 557

    Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces by C. Gils, M.-C. Eckhardt, P. E. Nielsen, M. Nybo

    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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  18. 558

    The genetic control of the day- neutral habit in populations of Fragaria vesca (Rosaceae) in Western Siberia by S. O. Baturin

    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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  19. 559

    Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model by Yasunori Sato, Xiang Shan Ren, Yasuni Nakanuma

    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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  20. 560

    Allelic diversity of the <i>Vrn</i> genes and the control of growth habit and earliness in wheat by S. E. Smolenskaya, N. P. Goncharov

    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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