Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas by Mehmet Demirdöven, Hamza Yazgan, Mevlit Korkmaz, Arzu Gebeşçe, Alparslan Tonbul

“…Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. …”
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INFLUENCE OF THE TIME OF DISINHIBITION TO TRANSIENTS AND WEAR OF THE FRICTION LININGS IN AN ASYNCHRONOUS MOTOR by V. V. Solencov, V. V. Brel

“…Time and the stopping distance of the electric drive with frequent starting-and-braking modes that contain embedded asynchronous motor with a recessed combined braking device depend on the moment of an electromagnet disinhibition. …”
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The Efficacy of Monetary and Fiscal Policies on Economic Growth: Evidence from Thailand by Pathairat Pastpipatkul, Htwe Ko

“…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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Kartagener Syndrome: A Rare Cause of Infertility by Kadir Bakay, Davut Güven, İdris Koçak

“…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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Anesthesic Management for Escobar Syndrome: Case Report by Ayse Hande Arpaci, Fusun Bozkirli, Onur Konuk

“…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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Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration by S. Choayb, H. Adil, Daoud Ali Mohamed, N. Allali, L. Chat, S. El Haddad

“…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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Scalp-Ear-Nipple Syndrome: A Case Report by Estela Morales-Peralta, Vivian Andrés, Dainé Campillo Betancourt

“…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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Conditions for maintaining and eroding pseudo-overdominance and its contribution to inbreeding depression by Abu-Awad, Diala, Waller, Donald

“…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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Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings by Hortensia De la Corte-Rodriguez, E. Carlos Rodriguez-Merchan, M. Teresa Alvarez-Roman, Ana L. Hernandez-Moreno

“…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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Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations by D. E. Ivanoshchuk, S. V. Mikhailova, O. G. Fenkova, E. V. Shakhtshneider, A. Z. Fursova, I. V. Bychkov, M. I. Voevoda

“…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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Arthrogryposis Multiplex Congenita: Case Report by Ayla Aktulay, Saliha Sağnıç, Özlem Moraloğlu Tekin, Yaprak Engin Üstün, Elif Gül Yapar Eyi, Leyla Mollamahmutoğlu

“…Although it is autosomal recessively inherited, sporadic cases have also been reported. …”
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A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) by Rami A. Misk, Lama Qawasme, Fawzy M. Abunejma, Bahaa Ibrahim Abu Rahma, Ehab Mohammad Abuawwad, Raja Imad Abu Iram, Abdulrahman Hussein Karaki, Tareq Z. Alzughayyar, Jihad Samer Zalloum

“…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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Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report by Neerja Gupta, Anita Kaul, Madhulika Kabra

“…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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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature by Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum

“…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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Comparative Transcriptome Analyses of Resistant and Susceptible Near-Isogenic Wheat Lines following Inoculation with Blumeria graminis f. sp. tritici by Piyi Xing, Xueying Zhang, Yinguang Bao, Yuhai Wang, Honggang Wang, Xingfeng Li

“…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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A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…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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The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature by Courtney E. Bennett, Ronald Freudenberger

“…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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Methyl-Arginine Profile of Brain from Aged PINK1-KO+A53T-SNCA Mice Suggests Altered Mitochondrial Biogenesis by Georg Auburger, Suzana Gispert, Nadine Brehm

“…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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Donors of effective genes for scald resistance in barley by G. S. Konovalova, E. E. Radchenko

“…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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Genetic control of yield components in green beans (<i>Phaseolus vulgaris</i> L.) by M. Contreras-Rojas, D. G.G. Guzmán, S. A. Salazar Mercado

“…The correlation coefficient r (Yr; Wr + Vr) indicated that dominant genes were responsible for the increased number of pods per plant and recessive genes for increased pod length and mean pod weight.Conclusions. …”
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