34 results on '"Proust, Alexis"'
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2. OR17-05 Lysine Demethylase KDM1A And Ectopic Expression Of GIP-Receptor In Somatotropinomas Of Patients With Paradoxical Response To Oral Glucose
3. Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia
4. P612: Application of prenatal exome sequencing in fetuses with multiple congenital sonographic abnormalities: A report of three cases
5. AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature
6. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose
7. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose
8. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose
9. Undetectable Production of the VIM-1 Carbapenemase in an Atlantibacter hermannii Clinical Isolate
10. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory
11. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
12. Identification by high-throughput sequencing of HPV variants and quasispecies that are untypeable by linear reverse blotting assay in cervical specimens
13. Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneity
14. Decreased B cell activating factor receptor expression on peripheral lymphocytes associated with increased disease activity in primary Sjögren’s syndrome and systemic lupus erythematosus
15. First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome
16. Default in plasma and intestinal IgA responses during acute infection by simian immunodeficiency virus
17. Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis
18. p52 Activation in Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder/Diffuse Large B-Cell Lymphoma without BAFF-R Expression
19. The ribosomal basis of Diamond-Blackfan Anemia : mutation and database update
20. Evaluation of Leukemic Stem Cell Persistence in Chronic Myeloid Leukemia (CML) Patients in Complete Molecular Remission Induced by First Line TKI Therapies
21. A Single Chronic Myeloid Leukemia (CML) Stem Cell Harboring Both BCR-ABL and JAK2-V617F Mutation Modeled by Induced Pluripotency
22. NF-κB-Mediated Modulation of Inducible Nitric Oxide Synthase Activity Controls Induction of the Epstein-Barr Virus Productive Cycle by Transforming Growth Factor Beta 1
23. Genetic variants in the noncoding region ofRPS19gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneity
24. P52 Activation in Monomorphic B-Cell Post-Transplant Lymphoproliferative Disorders without BAFF-R Expression.
25. Expression of the BAFF-R (BR3) Is Positive in a Minority of Diffuse Large B Cell Lymphomas and Does Not Correlate with the Germinal Center or Non Germinal Center Origin of Lymphomatous Cells.
26. The First Homozygous RPS19 Mutation Identified in a Diamond-Blackfan Anemia Patient Is Not Deleterious.
27. Proteasome Inhibitors Restore to Normal the Decreased Levels of Protein Expression and Nucleolar Localization of Various Mutant Ribosomal S19 Proteins Identified in DBA Patients.
28. Molecular Basis of Congenital Dyserythropoietic Anemia Type I in French Patients.
29. Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India.
30. Whole Genome Sequencing Of Chronic Myeloid Leukemia (CML)-Derived Induced Pluripotent Stem Cells (iPSC) Reveals Faithful Genocopying Of Highly Mutated Primary Leukemic Cells
31. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
32. NF-kappaB-mediated modulation of inducible nitric oxide synthase activity controls induction of the Epstein-Barr virus productive cycle by transforming growth factor beta 1.
33. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
34. No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjögren's syndrome.
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