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341
The Efficacy of Monetary and Fiscal Policies on Economic Growth: Evidence from Thailand
Published 2025-01-01“…This study makes an empirical contribution to the ongoing debate on the effectiveness of MP and FP in boosting growth and aiding in the recovery from recessions in the case of Thailand. In addition, this study not only acknowledged certain limitations but also recommended policies to sustain the Thai economy.…”
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342
Kartagener Syndrome: A Rare Cause of Infertility
Published 2015-08-01“…Kartagener’s syndrome is defined as motility dysfunction of the epithelial cilia lining the respiratory tract, fallopian tubes and the flagella of the sperm and genetically classified as a rare autosomal recessive disease consisting almost half of all primary ciliary dyskinesia cases. …”
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343
Anesthesic Management for Escobar Syndrome: Case Report
Published 2011-01-01“…Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. …”
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344
Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration
Published 2021-01-01“…Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). …”
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345
Scalp-Ear-Nipple Syndrome: A Case Report
Published 2014-01-01“…We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease.…”
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346
Arthrogryposis Multiplex Congenita: Case Report
Published 2013-12-01“…Although it is autosomal recessively inherited, sporadic cases have also been reported. …”
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347
A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2)
Published 2022-01-01“…A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. …”
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348
Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report
Published 2013-01-01“…Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. …”
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349
Conditions for maintaining and eroding pseudo-overdominance and its contribution to inbreeding depression
Published 2023-01-01“…Classical models that ignore linkage predict that deleterious recessive mutations should purge or fix within inbred populations, yet inbred populations often retain moderate to high segregating load. …”
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350
Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings
Published 2016-01-01“…We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. …”
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351
Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations
Published 2020-12-01“…Most cases of PСG are sporadic, but familial cases with an autosomal recessive (predominantly) and autosomal dominant (rare) type of inheritance have been described. …”
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352
Study of the association of polymorphisms of the folate cycle enzyme gene with the degree of cognitive and affective disorders in patients in the post-covid period
Published 2023-12-01“…Individuals of the group 1 C677C, who had an additional recessive homozygous C1298C mutation (group 1a, n=6), were characterized by an elevated level of homocysteine, which showed a high negative correlation with serum folate (r= -0.95). …”
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353
Case Report: The importance of genetic counseling for families with hyperinsulinism
Published 2025-01-01“…A newborn had hypoglycemia at birth and was diagnosed with focal HI due to a paternally inherited recessive ABCC8 variant. Years later the paternal half-sibling was diagnosed with HI. …”
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354
Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature
Published 2015-01-01“…Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. …”
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355
Comparative Transcriptome Analyses of Resistant and Susceptible Near-Isogenic Wheat Lines following Inoculation with Blumeria graminis f. sp. tritici
Published 2017-01-01“…The overlapping DEGs between the dominant phenotypes (L031 and F1 hybrid) and the recessive phenotype (Chancellor) were 1028 and 2214 DEGs, which were clearly lower than those between the dominant and recessive parents and thus could provide relatively accurate and valuable information. …”
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356
A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases
Published 2025-01-01“…The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. …”
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357
Congenital Absence of the Nails: A Variant of Cooks Syndrome
Published 2024-12-01“…It occurs due to autosomal dominant or recessive inheritance. Normal skin at sites of missing nails and absence of distal phalanges on radiography are features. …”
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358
The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature
Published 2016-01-01“…Isolated left ventricular noncompaction (LVNC) is a genetic cardiomyopathy characterized by prominent ventricular trabeculations and deep intertrabecular recesses, or sinusoids, in communication with the left ventricular cavity. …”
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359
Methyl-Arginine Profile of Brain from Aged PINK1-KO+A53T-SNCA Mice Suggests Altered Mitochondrial Biogenesis
Published 2016-01-01“…Hereditary Parkinson’s disease can be triggered by an autosomal dominant overdose of alpha-Synuclein (SNCA) or the autosomal recessive deficiency of PINK1. We recently showed that the combination of PINK1-knockout with overexpression of A53T-SNCA in double mutant (DM) mice potentiates phenotypes and reduces survival. …”
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360
Donors of effective genes for scald resistance in barley
Published 2020-10-01“…Each of accessions k-31504 and k-31505 incorporates 2 recessive pathogen resistance genes; k-31503 carries 3 recessive resistance genes.…”
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