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The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
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Revisiting the surgical table: An analysis of surgical dose-response in Asian exotropia
Published 2025-02-01Subjects: Get full text
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Medial rectus resection versus plication in basic type intermittent exotropia
Published 2024-05-01Subjects: Get full text
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Hyaluronic acid efficacy in root coverage procedures: a systematic review and meta-analysis
Published 2025-01-01Subjects: “…Gingival recession…”
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Impact of socioeconomic and political stressors on mental health: a cross-sectional study on university students in Lebanon
Published 2025-01-01Subjects: Get full text
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A Review of Gingival Recession and the Surgical Managements According to Their Classification and Etiologic Backgrounds: A Clinical Case Study
Published 2024-01-01“…Mucogingival deformities are a group of defects that occur around the cervical area of the teeth. Gingival recession is the most common type of these deformities. …”
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Combining Techniques to Treat Isolated Deep Recession-Type Defects: A Case Report with Long-Term Stability
Published 2021-01-01“…A 28-year-old female patient was referred in order to treat a single recession defect at #22. Due to her fear of dental procedures and a poor economic situation, the team developed an alternative solution. …”
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Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant
Published 2024-12-01“…The results showed a homozygous autosomal recessive missense c.5849C>T (p.Pro1950Leu) variant in exon 16 of the TRIOBP gene. …”
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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease
Published 2014-01-01“…Amniocentesis was performed for karyotype and to search for mutations in the PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. …”
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Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
Published 2025-01-01“…Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features. …”
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Design and Analysis of Nanoscaled Recessed-S/D SOI MOSFET-Based Pseudo-NMOS Inverter for Low-Power Electronics
Published 2019-01-01“…In this paper, a comparative analysis of nanoscaled triple metal gate (TMG) recessed-source/drain (Re-S/D) fully depleted silicon-on-insulator (FD SOI) MOSFET has been presented for the design of the pseudo-NMOS inverter in the nanometer regime. …”
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Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis
Published 2025-01-01“…Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations. …”
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Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa
Published 2015-01-01“…This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. …”
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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
Published 2024-08-01“…Abstract Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. …”
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THE RUSSIAN FEDERATION BEGINS THE 2016th: IS THE COUNTRY WAITING FOR THE ECONOMIC SLOWDOWN, DEPRESSION OR UPTURN?
Published 2016-06-01Subjects: Get full text
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Mucopolysaccharidosis: A rare case from ophthalmology perspective
Published 2025-01-01Subjects: “…autosomal recessive…”
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