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Your search keyword '"Marum J"' showing total 13 results

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13 results on '"Marum J"'

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1. Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.

2. Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

3. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

4. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

5. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

6. Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

7. What to do with a negative exome?.

8. What to do with a negative exome?.

9. Pitfalls of immunotherapy: Lessons from a patient with CTLA-4 haploinsufficiency.

10. Pitfalls of immunotherapy: Lessons from a patient with CTLA-4 haploinsufficiency 11 Medical and Health Sciences 1107 Immunology.

11. Rapid genomic testing: Can the challenges be metin routine clinical practice?.

12. Pitfalls of immunotherapy: Lessons from a patient with CTLA-4 haploinsufficiency.

13. Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency

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