Search

Your search keyword '"Shwachman-Diamond Syndrome genetics"' showing total 17 results

Search Constraints

Start Over You searched for: Descriptor "Shwachman-Diamond Syndrome genetics" Remove constraint Descriptor: "Shwachman-Diamond Syndrome genetics" Publication Year Range Last 3 years Remove constraint Publication Year Range: Last 3 years
17 results on '"Shwachman-Diamond Syndrome genetics"'

Search Results

1. Emerging genetic technologies informing personalized medicine in Shwachman-Diamond syndrome and other inherited BMF disorders.

2. Integrated proteogenomic analysis for inherited bone marrow failure syndrome.

3. [Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].

4. The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.

5. [Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study].

6. Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.

7. Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.

8. Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.

9. Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome.

10. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

11. A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.

12. A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.

13. Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.

14. Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.

15. Inducible Sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation.

16. Translational research for bone marrow failure patients.

17. Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.

Catalog

Books, media, physical & digital resources