Works matching IS 10597794 AND DT 2025 AND VI 2025
Results: 15
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma.
- Published in:
- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/8884636
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- Article
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/1497712
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- Article
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7317429
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- Article
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6382674
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- Article
Identification and Functional Characterization of a Novel PRPS1 Variant in X‐Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6690588
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- Article
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/9951922
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- Article
Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast China.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7730186
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- Article
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/1443580
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- Article
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7085599
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- Article
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6096758
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- Article
Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6391770
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- Article
Clinic Examination and Gene Diagnosis for a Birt–Hogg–Dubé Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense‐Mediated mRNA Degradation.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7194418
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- Article
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6657400
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- Article
Whole Genome Sequencing of "Mutation‐Negative" Individuals With Cornelia de Lange Syndrome.
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- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/4711663
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- Article
Functional Analysis of Complex Structural and Splice‐Altering Variants in the ARSB Gene Towards the Personalized Antisense‐Based Therapy for Mucopolysaccharidosis Type VI Patients.
- Published in:
- Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/2250030
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- Article