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Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
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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82
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
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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Trajectory of Steady Growth or Next Disbalance of Mechanisms of the World Economy
Published 2019-11-01Subjects: Get full text
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84
ECONOMIC POLICY TO OVERCOME STAGNATION AFTER THE FINANCIAL CRISIS
Published 2021-02-01Subjects: Get full text
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Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)
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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87
Microsurgical Semilunar Bilaminar Technique Halts Progression of Marginal Tissue Recession by Soft Tissue Phenotypic Modification—A Case Report With 3‐Year Follow‐Up
Published 2025-01-01“…It also halts the progression of recession, enhances tissue resilience and improved plaque control sustainable over 3 years. …”
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Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle
Published 2025-02-01Subjects: Get full text
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89
L’économie tunisienne face à la crise de la dette des subprimes et la crise des dettes souveraines européenne
Published 2013-10-01Subjects: Get full text
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90
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
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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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
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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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
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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93
Exploring the relationship between motor development and entrepreneurial traits in childhood
Published 2025-01-01Subjects: Get full text
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94
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01Subjects: “…Autosomal recessive…”
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Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
Published 2025-02-01Subjects: Get full text
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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
Published 2025-01-01Subjects: Get full text
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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
Published 2025-01-01Subjects: “…gingival papilla|reconstruction|customized|tunnel technique|connective tissue graft|gingival recession|pink and white aesthetics|periodontitis…”
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Editorial: Consanguinity and rare genetic neurological diseases
Published 2025-02-01Subjects: Get full text
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