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Rescue of Mutant CFTR Channel Activity by Investigational Co-Potentiator Therapy
Published 2025-01-01Subjects: Get full text
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123
Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation
Published 2025-01-01Subjects: “…cathepsin c gene mutation…”
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A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome
Published 2025-12-01Subjects: Get full text
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126
A case report of infantile fibrosarcoma with BRAF gene mutation with incomplete intestinal obstruction
Published 2025-01-01Subjects: Get full text
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127
Deconstructing the Politics of Linguistic Mutation in Tom Stoppard’s Dogg’s Hamlet, Cahoot’s Macbeth
Published 2024-09-01Subjects: Get full text
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128
Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome
Published 2025-01-01Subjects: Get full text
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129
Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability
Published 2025-01-01Subjects: Get full text
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130
Establishment of a Breeding Approach Combined with Gamma Ray Irradiation and Tissue Regeneration for Highbush Blueberry
Published 2025-01-01Subjects: Get full text
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131
Identifying Allosteric Small-Molecule Binding Sites of Inactive NS2B-NS3 Proteases of Pathogenic <i>Flaviviridae</i>
Published 2024-12-01Subjects: Get full text
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132
Co-isolation of human donor eye cells and development of oncogene-mutated melanocytes to study uveal melanoma
Published 2025-01-01Subjects: Get full text
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133
CaGe: A Web-Based Cancer Gene Annotation System for Cancer Genomics
Published 2012-03-01Subjects: Get full text
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134
Treatment and Genotypic Characteristics of Patients with Rheumatoid Arthritis
Published 2025-01-01Subjects: Get full text
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135
Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family
Published 2024-05-01Subjects: Get full text
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136
Association between the rifampicin resistance mutations and rifabutin susceptibility in Mycobacterium tuberculosis: A meta-analysis
Published 2025-01-01Subjects: “…Rifampicin resistance mutation…”
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137
Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene
Published 2025-01-01Subjects: Get full text
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138
Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15
Published 2025-01-01Subjects: Get full text
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139
TMBocelot: an omnibus statistical control model optimizing the TMB thresholds with systematic measurement errors
Published 2025-01-01Subjects: “…tumor mutation burden…”
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