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321
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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322
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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323
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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324
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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325
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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326
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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327
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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328
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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329
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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330
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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331
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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332
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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333
Growth hormone treatment in congenital tufting enteropathy: a case report and literature review
Published 2025-01-01“…CTE is a rare autosomal recessive enteropathy that typically presents with persistent diarrhea. …”
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334
Simple Meets Single: The Application of CRISPR/Cas9 in Haploid Embryonic Stem Cells
Published 2017-01-01“…Mammalian haploid embryonic stem cells (haESCs) have only one set of chromosomes per cell, avoiding the issue of heterozygous recessive mutations in diploid cells. Thus, the combination of haESCs and CRISPR/Cas9 facilitates the generation of genome-wide knockout cell libraries for genetic screening. …”
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335
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome
Published 2024-01-01“…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. …”
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336
Out-of-Sample Predictability of the Equity Risk Premium
Published 2025-01-01“…Acknowledging the different predictability of the equity premium in expansions and recessions, this paper proposes an approach that combines equity premium forecasts from two-state regression models using an agreement technical indicator as the observable state variable. …”
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337
Allgrove syndrome in endocrinology: Difficulties of diagnosis and treatment features. Case report
Published 2024-12-01“…Allgrove syndrome is a rare autosomal recessive disorder characterized by the achalasia, alacrimia, adrenal insufficiency, which gave the additional and more recognizable name of this pathology – “Triple-A syndrome”. …”
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338
Congenital Aplasia Cutis. A Series of Three Cases
Published 2021-03-01“…It can appear in isolation or as part of several polymalformative syndromes, observing autosomal recessive and autosomal dominant inheritance patterns. …”
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339
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia
Published 2019-01-01“…Here we present a Japanese patient with a recessive form of CPVT.…”
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340
Successful Aortic Aneurysm Repair in a Woman with Severe von Willebrand (Type 3) Disease
Published 2015-01-01“…It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. …”
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