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Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/7760556
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- Publication type:
- Article
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3043736
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- Article
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.
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- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9268911
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- Article
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6411444
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- Publication type:
- Article
The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1844190
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- Publication type:
- Article
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9115364
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- Publication type:
- Article
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9920230
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- Publication type:
- Article
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/4830045
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- Publication type:
- Article
Genome Sequencing of Idiopathic Speech Delay.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9692863
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- Publication type:
- Article
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1611838
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- Publication type:
- Article
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8205102
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- Publication type:
- Article
Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/5021689
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- Publication type:
- Article
Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by Whole-Exome Sequencing in Patients with Crohn's Disease.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/5573272
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- Publication type:
- Article
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8849348
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- Publication type:
- Article
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9857442
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- Publication type:
- Article
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6580561
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- Publication type:
- Article
Functional Analysis of 3′UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9964734
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- Publication type:
- Article
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.
- Published in:
- Human Mutation, 2024, p. 1, doi. 10.1155/2024/6619280
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- Publication type:
- Article
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
- Published in:
- Human Mutation, 2024, p. 1, doi. 10.1155/2024/5518289
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- Publication type:
- Article
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.
- Published in:
- Human Mutation, 2024, p. 1, doi. 10.1155/2024/4450082
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- Article