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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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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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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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Sjogren–Larsson Syndrome: A Familial Disease Afflicting Three Siblings Born of a Nonconsanguinous Marriage
Published 2024-12-01Subjects: “…autosomal recessive…”
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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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Economic crises and climate action: the enduring role of CBDR
Published 2025-01-01Subjects: Get full text
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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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Influence of buccal mucosa width/height ratio, emergence profile and buccal bone width on peri-implant tissues: a prospective one-year study
Published 2025-01-01Subjects: Get full text
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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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Exploring the relationship between motor development and entrepreneurial traits in childhood
Published 2025-01-01Subjects: Get full text
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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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Association of digital screen use during recess with physical activity behaviours in 10-year-old to 17-year-old Danish adolescents: a population-based cross-sectional study
Published 2025-01-01“…Background The widespread ownership of digital devices among adolescents presents challenges and opportunities in schools, particularly during recess. This study aimed to examine the association of screen use during recess with physical activity behaviours.Methods The study was based on a population-based cross-sectional study including 1347 adolescents from 28 schools (2017–2018). …”
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Intermediate Osteopetrosis with Hooked-Shaped Phalanges
Published 2024-12-01Subjects: 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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