Search Results - "Su, Lanxin"
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EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis
Published in International journal of molecular sciences (01-10-2024)“…Deciduous tooth agenesis is a severe craniofacial developmental defect because it affects masticatory function from infancy and may result in delayed growth…”
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Four Novel PAX9 Variants and the PAX9 -Related Non-Syndromic Tooth Agenesis Patterns
Published in International journal of molecular sciences (24-07-2022)“…The purpose of this research was to investigate and identify PAX9 gene variants in four Chinese families with non-syndromic tooth agenesis. We identified…”
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Journal Article -
3
A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome
Published in Diagnostics (Basel) (24-11-2022)“…The goal of the current study was to identify the pathogenic gene variant in a Chinese family with Blepharocheilodontic (BCD) syndrome. Whole-exome sequencing…”
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Journal Article -
4
Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype
Published in Diagnostics (Basel) (07-12-2022)“…The goal of this study was to identify the pathogenic gene variants in patients with odonto-onycho-dermal dysplasia syndrome (OODD) or nonsyndromic tooth…”
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5
Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern
Published in Diagnostics (Basel) (23-09-2022)“…The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED)…”
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Journal Article -
6
A novel WNT10A variant impairs the homeostasis of alveolar bone mesenchymal stem cells
Published in Oral diseases (09-06-2024)“…To explore the influence of a novel WNT10A variant on bone mineral density, proliferation, and osteogenic differentiation capacities of alveolar bone…”
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Dose Dependence Effect in Biallelic IWNT10A/I Variant-Associated Tooth Agenesis Phenotype
Published in Diagnostics (Basel) (01-12-2022)“…The goal of this study was to identify the pathogenic gene variants in patients with odonto-onycho-dermal dysplasia syndrome (OODD) or nonsyndromic tooth…”
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Journal Article -
8
A Novel ICDH1/I Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome
Published in Diagnostics (Basel) (01-11-2022)“…The goal of the current study was to identify the pathogenic gene variant in a Chinese family with Blepharocheilodontic (BCD) syndrome. Whole-exome sequencing…”
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Journal Article -
9
Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with IEctodysplasin-A/I Variants and the X-Chromosome Inactivation Pattern
Published in Diagnostics (Basel) (01-09-2022)“…The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED)…”
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Journal Article -
10
MOTUNER: An Online Automatic Container Tuning System for Spark on YARN
Published in 2021 7th International Conference on Computer and Communications (ICCC) (10-12-2021)“…Nowadays Spark has become one of the most popular big data frameworks. In the deploy mode of Spark on YARN, applications apply for resources in the form of…”
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