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401
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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402
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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403
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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404
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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405
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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406
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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407
Bilateral Recurrent Laryngeal Nerve Palsy following Total Thyroidectomy in Triple A Syndrome, an Unexpected but Critical Complication
Published 2021-01-01“…Triple “A” syndrome (TAS) is a rare autosomal recessive disorder that presents in childhood with achalasia cardia, alacrima, ACTH-resistant adrenal insufficiency, with sensorimotor and autonomic polyneuropathy developing later in the course of the disease. …”
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408
Keratosis Palmoplantar-periodontopathy Syndrome – A Clinical Diagnostic Dilemma
Published 2024-12-01“…Papillon–Lefevre syndrome is an autosomal recessive disorder distinguished mainly by a triad of palmar-plantar hyperkeratosis, aggressive periodontitis involving both deciduous and permanent dentition and intracranial calcifications. …”
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409
Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China
Published 2010-01-01“…Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. …”
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410
Griscelli syndrome type 2: Rare 3 cases from Iraq
Published 2024-12-01“…Griscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. …”
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411
Un-Haunted House : Spirits, Solid Citizens, and Babbitt
Published 2013-05-01“…The middle-class home is decidedly un-haunted, resistant to notions that the “hidden self,” to borrow a phrase from William James, has any gothic recesses. The result is that the utopian longings associated with spiritualism are reconciled with the biography of the “solid citizen,” which, incidentally, was the working title for Babbitt.…”
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412
Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population
Published 2025-01-01“…ContextWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. …”
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413
Access to support services for individuals who experience intimate partner violence during stressful life events (SLEs) in high-income countries: Protocol for a scoping review.
Published 2022-01-01“…<h4>Discussion</h4>The scoping review will provide synthesized and summarized findings on literature regarding access to informal and formal social supports by victims of IPV during SLEs (i.e., pandemics and natural/environmental disasters/emergencies, economic recessions) where possible, highlighting key barriers, facilitators and lessons learned. …”
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414
Development of a marker panel for genotyping of domestic soybean cultivars for genes controlling the duration of vegetation and response to photoperiod
Published 2021-12-01“…The degree of earliness of cultivars positively correlated with the number of recessive genes E1–E4, which is consistent with the data of foreign authors on different sets of cultivars from Japan and North China. …”
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415
Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea
Published 2019-01-01“…Perrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. …”
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416
Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure
Published 2015-01-01“…Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. …”
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417
Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency
Published 2025-01-01“…Cytosolic isoleucyl-tRNA synthetase (IARS1) deficiency, an exceptionally rare autosomal recessive inherited disorder, is characterized by multiple system involvement, including growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy. …”
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418
Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
Published 2023-01-01“…Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding that requires life-long total parental nutrition (TPN) to acquire adequate calories and fluid intake or small bowel transplantation in severe cases. …”
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419
A Report on a Family with TMTC3-Related Syndrome and Review
Published 2020-01-01“…Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. …”
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420
Nephronophthisis: A Genetically Diverse Ciliopathy
Published 2011-01-01“…Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. …”
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