360 results on '"Romana, S."'
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2. Anomalías cromosómicas y su diagnóstico en patología constitucional
3. Continuity of Hausdorff Dimension Across Generic Dynamical Lagrange and Markov Spectra II
4. P59 - Coût de l'analyse du génome chez les patients atteints de déficience intellectuelle : une étude de micro-costing dans un contexte français
5. Electro-clinical features in epileptic children with chromosome 15q duplication syndrome
6. LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
7. P842 SARS-CoV-2 antibody titers analysis in immune mediated inflammatory disease patients after COVID-19 vaccination: a monocentric retrospective study
8. C-Peptide: Connecting Diabetes with Macrovascular Complications
9. Insulinlike Growth Factor–Binding Protein-1 Improves Vascular Endothelial Repair in Male Mice in the Setting of Insulin Resistance
10. Sales of Innovation Products by Engineering Enterprises
11. Diagnostic des anomalies chromosomiques par CGH array en pathologie constitutionnelle : la fin du caryotype en première intention
12. Effect of Acetaminophen use during pregnancy on adverse pregnancy outcomes: a systematic review and meta-analysis
13. No chromosome arm unturned: in memory of Roland Berger 1934–2012
14. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
15. Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
16. La rémission précoce à 6 mois comme prédicteur de la rémission à long terme dans la polyarthrite rhumatoïde débutante
17. Knowledge and skill
18. Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma
19. Analyse chromosomique sur puce à ADN (CGH array) : principe et application en diagnostic prénatal
20. NUP98–HMGB3: a novel oncogenic fusion
21. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique
22. AB0758 REAL-WORLD EFFICACY AND SAFETY OF APREMILAST IN BELGIAN PATIENTS WITH PSORIATIC ARTHRITIS: FINAL ANALYSIS OF THE MULTICENTRE, PROSPECTIVE APOLO STUDY
23. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
24. Diurnal Variation in Vascular and Metabolic Function in Diet-Induced Obesity: Divergence of Insulin Resistance and Loss of Clock Rhythm
25. C-Peptide: Connecting Diabetes with Macrovascular Complications
26. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
27. Caractérisation de l’expression des alarmines et des variants A-SAA dans la polyarthrite rhumatoïde débutante
28. Factors associated with older patients' misunderstandings of medication dosage regimen instructions after consultation in primary care in Brazil
29. AB0758 REAL-WORLD EFFICACY AND SAFETY OF APREMILAST IN BELGIAN PATIENTS WITH PSORIATIC ARTHRITIS: FINAL ANALYSIS OF THE MULTICENTRE, PROSPECTIVE APOLO STUDY
30. LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome
31. Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation
32. PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR γ-INDEPENDENT EFFECTS OF THIAZOLIDINEDIONES ON HUMAN CARDIAC MYOFIBROBLAST FUNCTION
33. Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism
34. First prenatally diagnosed case of 16p11.2p12.1 duplication
35. Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene
36. Secondary acute myeloblastic leukemia with t(16;21)(q24;q22) involving the AML1 gene
37. NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance
38. PMX2B, a new candidate gene for Hirschsprungʼs disease
39. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
40. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
41. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
42. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype
43. Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes
44. Factors associated with older patients' misunderstandings of medication dosage regimen instructions after consultation in primary care in Brazil.
45. Quoi de neuf en médecine fœtale ?
46. Cervical Myelopathy With False Localizing Sensory Levels
47. Effects of obesity on insulin: insulin-like growth factor 1 hybrid receptor expression and Akt phosphorylation in conduit and resistance arteries
48. Endothelial Insulin Receptor Restoration Rescues Vascular Function in Male Insulin Receptor Haploinsufficient Mice
49. Analyse d’impact budgétaire de la généralisation du diagnostic pré-implantatoire à tous les couples dont l’un des membres est porteur d’une translocation réciproque équilibrée
50. Analyse coût-efficacité de la prise en charge des patients dont l’un des membres est porteur d’une translocation chromosomique équilibrée
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