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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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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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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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Mucopolysaccharidosis: A rare case from ophthalmology perspective
Published 2025-01-01Subjects: “…autosomal recessive…”
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The macroeconomic effects of covid-19:the imperative need for a Keynesian solution
Published 2021-05-01Subjects: Get full text
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Recessive transition of rural residential land use from the perspective of value co-creation: A case study of Yiwu City, Zhejiang
Published 2025-01-01Subjects: “…value co-creation|recessive transition of land use|rural residential land redevelopment|yiwu…”
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Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
Published 2025-01-01“…Abstract Craniometaphyseal dysplasia (CMD), a rare craniotubular disorder, occurs in an autosomal dominant (AD) or autosomal recessive (AR) form. CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones. …”
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Two-Stage Mucogingival Surgery with Free Gingival Autograft and Biomend Membrane and Coronally Advanced Flap in Treatment of Class III Millers Recession
Published 2016-01-01“…Introduction. Gingival recession is an apical shift of the gingival margin with exposure of the root surface. …”
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Efficacy of Tunnel Technique (TUN) versus Coronally Advanced Flap (CAF) in the Management of Multiple Gingival Recession Defects: A Meta-Analysis
Published 2023-01-01“…CAF in the treatment of multiple gingival recession defects.…”
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Anticipations of the Crisis: On the Similarities between post-Keynesian Economics and Regulation Theory
Published 2011-12-01Subjects: Get full text
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Management of Graves’ upper eyelid retraction (GUER): A review
Published 2025-02-01Subjects: Get full text
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Characterization and simulation of AlGaN barrier structure effects in normally-off recessed gate AlGaN/GaN MISHEMTs
Published 2025-01-01Subjects: “…recessed gate structure…”
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