188 results on '"Varga, Elizabeth"'
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2. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
3. Germline Variant Interpretation in Children with Severe Sepsis
4. Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.
5. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia
6. 34. Comprehensive genomic characterization of infantile cancers reveals high yield of therapeutically targetable alterations
7. Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system
8. Discovery of clinically relevant fusions in pediatric cancer
9. A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity
10. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma
11. P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders
12. 117. Clinical lessons learned from Translational Molecular Profiling of Cancer and Somatic Disease
13. 23. Paired exome analysis in Mosaic Disease yields expanded Genotype-Phenotype Associations
14. Germline Variant Interpretation in Children with Severe Sepsis
15. SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature
16. MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature
17. The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance
18. 26. Co-occurrence of rosette-forming glioneuronal tumors with Noonan Syndrome
19. Additional file 1 of Discovery of clinically relevant fusions in pediatric cancer
20. You Want to Do What? My Mother’s Choice to Have Direct-to-Consumer Genetic Testing
21. Genetic counseling for inherited thrombophilias
22. Genetics in the context of thrombophilia
23. Inherited Thrombophilia: Key Points for Genetic Counseling
24. Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors
25. ATRT-21. RHABDOID PREDISPOSITION SYNDROME: REPORT OF MOLECULAR PROFILES AND TREATMENT APPROACH IN THREE CHILDREN WITH SYNCHRONOUS ATYPICAL TERATOID/RHABDOID TUMOR AND MALIGNANT RHABDOID TUMOR
26. RARE-37. NOONAN SYNDROME AND GLIONEURONAL TUMORS: A CENTRAL NERVOUS SYSTEM CANCER PREDISPOSITION ASSOCIATION?
27. EPEN-28. NOVEL ONCOGENE AMPLIFICATION IN SPINAL EPENDYMOMA INVOLVING THE MYC LOCUS (8q24)
28. RARE-31. RECURRENT CHOROID PLEXUS CARCINOMA IN THE SETTING OF LI-FRAUMENI SYNDROME: REPORT OF TWO CHILDREN MANAGED WITH INTENSIVE RE-INDUCTION AND MARROW-ABLATIVE CONSOLIDATION CHEMOTHERAPY WITHOUT IRRADIATION FOLLOWED BY MOLECULARLY-TARGETED BIOLOGICAL THERAPY
29. Infantile fibrosarcoma–like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib
30. Direct‐to‐consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience
31. A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors
32. Social and Ethical Controversies in Thrombophilia Testing and Update on Genetic Risk Factors for Venous Thromboembolism
33. Common clinical variables predict warfarin maintenance dose and therapeutic resistance
34. An Immense New Power to Heal: The Promise of Personalized Medicine: By Lee Gutkind and Pagan Kennedy, In Fact Books, Pittsburgh, PA, 2012. $15.95. ISBN: 978-1-9371630-6-8
35. Defining the role of a genetic counselor within pediatric hematology and oncology comprehensive care teams: Perspectives of the provider team and patients
36. Abstract 4551: Expression profiling-based characterization of immune cell populations in pediatric brain cancers
37. Abstract 484: Molecular profiling identifies a second malignancy in a patient with medulloblastoma
38. Fibrinogen Columbus II: A novel c.1075G>T mutation in the FGG gene causing hypodysfibrinogenemia and thrombosis in an adolescent male
39. A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases
40. Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma
41. Sickle cell trait knowledge and health literacy in caregivers who receive in-person sickle cell trait education
42. Sickle Cell Trait Knowledge and Health Literacy in Caregivers Who Receive in-Person Sickle Cell Trait Education
43. Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid−Dependent Pseudothrombocytopenia
44. Method-dependent Discrepancies in Fetal Hemoglobin Quantification in Patients With Hemoglobin S
45. EPI-06GERMLINE MUTATIONS IN GLIOBLASTOMA MULTIFORME (GBM) ASSOCIATED WITH AUTISM SPECTRUM DISORDER (ASD): CASE REPORT AND LITERATURE REVIEW
46. MB-26SHH DESMOPLASTIC/NODULAR MEDULLOBLASTOMA AND GORLIN SYNDROME IN THE SETTING OF DOWN SYNDROME: CASE REPORT WITH MOLECULAR PROFILING
47. PTPS-07COMPETING MOLECULAR GENETIC FORCES: TRISOMY 21(DOWN SYNDROME, DS) AND PTCH1 MUTATION (GORLIN SYNDROME) IN A 21 MONTH-OLD WITH SHH DESMOPLASTIC/NODULAR MEDULLOBLASTOMA
48. Preliminarno praćenje pojavnosti mikotoksina u kukuruzu na području kontinentalne Hrvatske
49. Bilateral Burkitt Lymphoma of the Ovaries: A Report of a Case in a Child with Williams Syndrome
50. Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE): Awareness and Prophylaxis Practices Reported by Patients with Cancer
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