Showing 81 - 100 results of 610 for search '"recession"', query time: 0.05s Refine Results
  1. 81

    Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families by Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang

    Published 2020-01-01
    “…Auditory features of the affected individuals are consistent with that previously reported for recessive mutations in TMC1 and MYO15A. The two novel mutations identified in this study, p.M413T in TMC1 and p.R1407T in MYO15A, are classified as likely pathogenic according to the guidelines of ACMG. …”
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  2. 82

    A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

    Published 2018-01-01
    “…Consistent with the recessive inheritance, cosegregation of the p.G141R variant with the hearing loss was confirmed in members of both families by PCR amplification and Sanger sequencing. …”
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    Thoughts About the Сrisis by A. A. Orlov

    Published 2012-08-01
    Subjects:
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  6. 86

    Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report) by Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani

    Published 2022-01-01
    “…Next generation sequencing revealed autosomal recessive TTI2 variant with uncertain significance, denoted as c.21_22insAAGCGCTCTG (p.Glu8Lysfs × 12). …”
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    In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay by Aurélie Louit, Marie-Josée Beaudet, Mathieu Blais, François Gros-Louis, Nicolas Dupré, François Berthod

    Published 2023-01-01
    “…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease mainly characterized by spasticity in the lower limbs and poor muscle control. …”
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  11. 91

    A Modified Bilaminar Technique with the Use of a Fibrin-Fibronectin System for a Single Gingival Recession: A Case Report with a Follow-Up of 3 Years by Michele Perelli, Paolo Giacomo Arduino, Mario Semenza, Roberto Abundo, Hector Sarmiento

    Published 2020-01-01
    “…This case report described a modified bilaminar technique for treating a single gingival recession. Patient presented a gingival recession in a maxillary canine. …”
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  12. 92

    Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A) by Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

    Published 2019-01-01
    “…The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated with DFNB1A. …”
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    Interproximal tunneling combined with customized connective tissue graft to improve severe papillary defects in the aesthetic zone: a case report and literature review by MAO Yudian, BAO Han, AI Luying, CHEN Weirong, CHEN Ling, WU Yun

    Published 2025-01-01
    Subjects: “…gingival papilla|reconstruction|customized|tunnel technique|connective tissue graft|gingival recession|pink and white aesthetics|periodontitis…”
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