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521
Evaluation of Rosenmuller Fossa with cone beam computed tomography: A retrospective radio-anatomical study
Published 2019-11-01“…Background: Rosenmuller fossa (RF) is known as a lateral pharyngeal recess, is bilaterally located beneath the skull base and behind the torus tubarius. …”
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522
A System for Robotic Extraction of Fasteners
Published 2025-01-01“…This study develops a system for extracting cross-recessed screws using a Deep Convolutional Neural Network (DCNN) for screw detection, integrated with industrial robot simulation software. …”
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523
"[T]hings among the ruins" : les choses contre le roc dans The Song of the Lark et The Professor’s House de Willa Cather
Published 2008-05-01“…The radiating presence of sculpted jars, instruments and jewels set in the recesses of the rock reveals the possibility of a gentle insertion of man’s hand in nature. …”
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524
Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report
Published 2021-01-01“…Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. …”
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525
Optimizing Bone Health in Duchenne Muscular Dystrophy
Published 2015-01-01“…Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscle weakness, with eventual loss of ambulation and premature death. …”
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526
The Association between Single-Nucleotide Polymorphisms of ORAI1 Gene and Breast Cancer in a Taiwanese Population
Published 2012-01-01“…Two of the ORAI1 SNPs (rs12320939 and rs12313273) were associated with estrogen receptors positive in breast cancer patients under the recessive model. When the Bonferroni correction was performed, the significance still existed. …”
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527
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome
Published 2010-01-01“…Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. …”
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528
Pontocerebellar hypoplasia: clinical case and literature review
Published 2019-09-01“… Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders which start in the intrauterine period and are inherited by autosomal recessive way. Structural changes caused by the mutation include cerebellar hypoplasia or atrophy, microcephalus, and hypoplasia of ventral pons. …”
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529
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays
Published 2025-02-01“…We enrolled 69 cases of recessive JEB, with 13.0% of these cases remained genetically undiagnosed following an initial exome sequencing. …”
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530
Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients
Published 2012-01-01“…Bardet-Biedel syndrome (BBS) is a rare autosomal recessive, genetically heterogeneous ciliopathy. Although the disease has been described in a patient with psoriasis, individuals with BBS are not known to be at risk of developing autoimmune disorders. …”
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531
The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis
Published 2011-01-01“…Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. …”
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532
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study
Published 2025-03-01“…Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. …”
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533
Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
Published 2022-01-01“…Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. …”
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534
A CACTA-like transposon in the Anthocyanidin synthase 1 (Ans-1) gene is responsible for apricot fruit colour in the raspberry (Rubus idaeus) cultivar 'Varnes'.
Published 2025-01-01“…PCR confirmed the presence in heterozygous form of the transposon in an unrelated, red-fruited cultivar 'Veten', indicating apricot fruit colour is recessive to red and that it may be widespread in raspberry germplasm, potentially explaining why apricot forms appear at regular intervals in modern raspberry breeding populations.…”
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535
Devising Yorùbá Terminology for Phonology Terms (from letter P to letter R)
Published 2023-11-01“…Some of the terms developed are palatalization, ìso̩dàfàjàpè, paragoge ìfìró-bò̩parí, parasitic harmony àǹkóò àfòmó̩, parse ìpínsífó̩rán-ìhun, partial overlapping ìwo̩nú-ara e̩lé̩be̩, phonaestheme fóníìmù-àyo̩túnyo̩, phonemic overlapping ìpòórá fóníìmù, phonological phrase boundary ààlà àpólà fonó̩ló̩jì, phonological prime fó̩nrán-akérépin fonó̩ló̩jì, quantity-sensitive feet è̩wo̩n-atéńté aníwò̩n-agbe̩gé̩, recessive vowel fáwè̩lì àdínkù, redundancy rule òfin aléélè̩ [1] See Yoruba – The Journal of Yoruba Studies Association of Nigeria, Volume 12:1, January 2023 and Volume 12:2, June 2023 for the first 2 of the four-part essays. …”
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536
Antenatal Bartter Syndrome: A Review
Published 2012-01-01“…Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. …”
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537
Poetics
Published 2021-12-01“…From this vantage point, Audre Lorde’s poetics is read as internal recommendations for building up the Africana dwelling by calling out what remains dormant or imperfectly considered within the realm of spiritual and political imagination: queer recesses of the heart. …”
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538
A Case Report of Dextrocardia with Situs Inversus: A Rare Condition and Its Clinical Importance
Published 2024-01-01“…Although the specific cause is uncertain, there is evidence of autosomal recessive and X-linked inheritance. Before seeking treatment for an unrelated ailment, many people with SIT are unaware of their distinct anatomy, as in our case. …”
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539
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition
Published 2017-01-01“…The autoinflammatory reaction observed closely resembles mevalonate kinase deficiency (MKD), a rare autosomal recessive disease in humans characterized by recurrent febrile attacks, arthralgia, skin rash, and aphthous ulcers of mucocutaneous tissues. …”
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540
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome
Published 2016-01-01“…Walker-Warburg syndrome (WWS) is a rare autosomal recessive congenital muscular dystrophy with brain malformations and ocular abnormalities that falls under the wider phenotypic spectrum of the dystroglycanopathies. …”
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