Showing 61 - 80 results of 610 for search '"recession"', query time: 0.05s Refine Results
  1. 61

    Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

    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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    Article
  2. 62

    Design and Analysis of Nanoscaled Recessed-S/D SOI MOSFET-Based Pseudo-NMOS Inverter for Low-Power Electronics by Anjali Priya, Nilesh Anand Srivastava, Ram Awadh Mishra

    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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    Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa by Bo Gong, Bo Wei, Lulin Huang, Jilong Hao, Xiulan Li, Yin Yang, Yu Zhou, Fang Hao, Zhihua Cui, Dingding Zhang, Le Wang, Houbin Zhang

    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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    Article
  7. 67

    Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes by Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia

    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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    Recessive transition of rural residential land use from the perspective of value co-creation: A case study of Yiwu City, Zhejiang by ZHANG Cong, LONG Hualou, FENG Dedong

    Published 2025-01-01
    Subjects: “…value co-creation|recessive transition of land use|rural residential land redevelopment|yiwu…”
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    Article
  13. 73

    Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia by Yasuyuki Fujii, Iichiro Okabe, Ayano Hatori, Shyam Kishor Sah, Jitendra Kanaujiya, Melanie Fisher, Rachael Norris, Mark Terasaki, Ernst J. Reichenberger, I-Ping Chen

    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 by Avita Rath, Smrithi Varma, Renny Paul

    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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