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301
Prenatal Diagnosis of Zellweger Syndrome: Case Report
Published 2013-04-01“… Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes, resulting in profound muscular hypotonia and death in the neonatal period. …”
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302
Anesthetic Approach for a Patient with Jeune Syndrome
Published 2015-01-01“…Jeune syndrome (JS) is an autosomal recessive disease also known as asphyxiating thoracic dystrophy. …”
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303
Pycnodysostosis with Special Emphasis on Dentofacial Characteristics
Published 2015-01-01“…Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. …”
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304
MECHANISMS FOR IMPLEMENTATION AND EVALUATION OF THE EFFECTIVENESS OF BUDGET POLICY IN THE COVID-19 PANDEMIC
Published 2020-10-01“…The widespread quarantine measures to prevent the COVID-19 pandemic and the consequences of their introduction on determining the recessive scenario of economic development in the near future have the greatest impact. …”
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305
Quelles organisations de la mobilité plus durables et moins dépendantes de la voiture dans les espaces ruraux à faible densité ? L’exemple du Parc naturel régional Loire-Anjou-Tour...
Published 2013-10-01“…In such a context, the excessive reliance on car for mobility is not a solution anymore: the poorly-served areas may then have to face a recessive dynamics, or even a new rural depopulation. …”
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306
Analysis of strawberry genetic collection (Fragaria L.) for Rca2 and Rpfl genes with molecular markers
Published 2018-11-01“…The other studied forms have homozygous recessive state of the marker STS-Rca2_240 (putative genotype rca2rca2). …”
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307
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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308
ANALYSIS OF A GENETIC COLLECTION OF TOMATO CULTIVARS AND HYBRID FORMS FOR RESISTANCE TO LEAF MOLD USING DNA MARKERS
Published 2019-10-01“…The molecular genetic analysis has shown that among all control samples, only this genotype was a recessive homozygote. Besides, according to the originator, this genotype is not resistant to leaf mold. …”
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309
Does protruding headless cannulated screw reduce fixation stability in tension band wiring technique for patella fractures? a biomechanical study
Published 2025-02-01“…Overall, three different fixation groups were determined: Group 1 (recessed headless cannulated screw fixation), Group 2 (full-length headless cannulated screw fixation), and Group 3 (protruding headless cannulated screw fixation). …”
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310
Powdery mildew resistance of barley accessions from Dagestan
Published 2021-09-01“…In accession VIR-23787, a recessive resistance gene distinct from the mlo11 allele was identified. …”
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311
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
Published 2018-01-01“…GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. …”
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312
Cognitive Impairment in Genetic Parkinson’s Disease
Published 2021-01-01“…In this review, we summarize data regarding cognitive function on clinical studies, neuroimaging, and biological markers of cognitive decline in autosomal dominant PD linked to mutations in LRRK2 and SNCA, autosomal recessive PD linked to Parkin and PINK1, and also PD linked to GBA mutations.…”
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313
Nanophthalmos: A Review of the Clinical Spectrum and Genetics
Published 2018-01-01“…Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1) and two loci have been implicated in familial forms of nanophthalmos. …”
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314
Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria
Published 2021-01-01“…Homocystinuria is a rare autosomal recessive metabolic disorder due to a defect in the cystathionine β-synthase (CBS) that leads to high homocysteine plasma levels. …”
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315
Oral Squamous Cell Carcinoma in a Patient with Fanconi Anemia
Published 2021-01-01“…Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). …”
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316
Levodopa Responsive Parkinsonism in Patients with Hemochromatosis: Case Presentation and Literature Review
Published 2017-01-01“…Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. …”
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317
Capital Gains Sensitivity of US BBB-Rated Debt to US Treasury Market: Markov-Switching Analyses
Published 2020-01-01“…Capital gain sensitivity between US BBB-rated bonds and Treasury bonds is weak and positive in normal periods, but strong and negative during recessions. In the upward phase of business cycles, changes in interest rates are fully reflected in the bond yields, leaving spreads unchanged, while in the downward phase, rates and spreads move in opposite directions. …”
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318
Anesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy
Published 2015-01-01“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with deficiency of thymidine phosphorylase (TP). …”
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319
Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies
Published 2015-01-01“…X-linked hydrocephaly is a rare sex-linked genetic recessive condition occurring in 1/30,000 deliveries. …”
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320
Coronal replacement flap associated or not with platelet-rich fibrin membrane. Case report
Published 2024-01-01“…Patient information: the case of a 30 year old male patient with a history of health, carrier of bilateral periodontal recessions in lower premolars is presented.The coronal replacement flap technique was performed in the right hemiarch and the same procedure was combined with the platelet-rich fibrin membrane on the left. …”
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