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2101
Comparative Transcriptome Analysis Reveals Molecular Defensive Mechanism of Arachis hypogaea in Response to Salt Stress
Published 2020-01-01“…International Journal of Genomics…”
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2102
A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
Published 2024-08-01“…Human Genome Variation…”
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2103
A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2104
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2105
Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2106
Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2107
Confirming Multiplex RT-qPCR Use in COVID-19 with Next-Generation Sequencing: Strategies for Epidemiological Advantage
Published 2022-01-01“…Global Health, Epidemiology and Genomics…”
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2108
Phenylbutyric Acid Modulates Apoptosis and ER Stress‐Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2109
Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2110
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2111
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1...
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2112
Prevalence and Associated Factors of Adolescent Obesity among Rural School Adolescents in Nepal: A Cross-Sectional Study
Published 2023-01-01“…Global Health, Epidemiology and Genomics…”
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2113
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2114
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2115
Development of Evidence-Based COVID-19 Management Guidelines for Local Context: The Methodological Challenges
Published 2022-01-01“…Global Health, Epidemiology and Genomics…”
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2116
Comparison of Rabies Cases Received by the Shomal Pasteur Institute in Northern Iran: A 2-Year Study
Published 2023-01-01“…Global Health, Epidemiology and Genomics…”
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2117
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2118
Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of...
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2119
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2120
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit
Published 2025-01-01“…Abstract The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the neonatal intensive care unit. …”
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