144 results on '"Hinderhofer K"'
Search Results
2. Pulmonary Vascular Remodeling May Precede Pulmonary Arterial Pressure Elevation in Pulmonary Veno-occlusive Disease- A Report of Three Cases
3. Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?
4. FMR1/FMRP regulates BMPR2 expression in human granulosa cells and is associated with poor ovarian response
5. P-543 The role of FMRP-associated microRNAs miR-125b and miR-132 and their target genes in the regulation of ovarian function
6. Genetic findings in a family with hereditary spherocytosis, haemolytic anaemia and pulmonary hypertension
7. Characterization of large deletions in the DHCR7 gene
8. O-080 Activated AKT/mTOR signalling in peripheral blood of women with premature ovarian insufficiency and its correlation with variable FMR1 expression profiles
9. P–514 RAN-Translation in Fragile X associated Premature Ovarian Insufficiency (FXPOI): FMRpolyG as a predictive tool
10. Alpha-Thalassämie-Retardierungs-Syndrom: ATRX-Syndrom bei 2 Jungen mit mentaler Retardierung und Muskelhypotonie
11. Genotype and phenotype heterogeneity of transthyretin-associated amyloidosis - A report from the German amyloidosis referral center: OS3223
12. Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox
13. Genetic findings in patients with different forms of pulmonary hypertension
14. Silver–Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)
15. High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
16. RAN-Translation in fragile X associated Premature Ovarian Insufficiency (FXPOI) FMRpolyG as predictive tool?
17. Genetic findings in patients with different forms of pulmonary hypertension
18. HSF3, a new heat shock factor from Arabidopsis thaliana, derepresses the heat shock response and confers thermotolerance when overexpressed in transgenic plants
19. Genetische Untersuchung bei Patienten mit chronisch thromboembolischer pulmonaler Hypertonie
20. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
21. Epigenetics and genetics of pulmonary arterial hypertension - New insights from the last years | Epigenetik und Genetik der pulmonal arteriellen Hypertonie - neue Erkenntnisse der letzten Jahre
22. 1207Mutations in the bone morphogenic protein receptor 2 promoter in heritable pulmonary arterial hypertension
23. BMPR2 gene promoter variants analysis in pulmonary arterial hypertension
24. Common genetic basis for pulmonary arterial hypertension and high altitude pulmonary edema
25. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
26. Molecular and applied aspects of the heat stress response and of common stress tolerance in plants
27. Der FMR1 CGG-Genotyp beeinflusst die granulosazelluläre FMR1 Expression bei Frauen mit Poor Ovarian Response
28. A new gene for heritable pulmonary arterial hypertension: Krüppel-like factor 2
29. A new fast molecular genetic diagnostic approach for pulmonary arterial hypertension
30. Mutation in BMPR2 promoter: a ‘second hit’ for manifestation of pulmonary arterial hypertension?
31. Glucocorticoid withdrawal - heterozygous carriers of congenital adrenal hyperplasia at risk?
32. Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline
33. Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses
34. Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis
35. In situ optical sequencing and structure analysis of a trinucleotide repeat genome region by localization microscopy after specific COMBO-FISH nano-probing
36. Epigenetik und Genetik der pulmonal arteriellen Hypertonie – neue Erkenntnisse der letzten Jahre
37. Characterization of large deletions in theDHCR7gene
38. Craniofrontonasal syndrome in a male due to chromosomal mosaicism involvingEFNB1: further insights into a genetic paradox
39. Choreatic movement disorder due to tyrosine hydroxylase deficiency caused by a novel mutation in the TH gene
40. Genetische Untersuchungen bei Kindern mit idiopathischer, hereditärer und mit angeborenem Herzfehler assoziierter pulmonal arterieller Hypertonie
41. High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
42. Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)
43. Glucocorticoid Withdrawal - Heterozygous Carriers of Congenital Adrenal Hyperplasia at Risk?
44. Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension
45. Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations
46. Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study
47. Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1 /Fragile X Mental Retardation Protein in Human Granulosa Cells in the Context of Poor Ovarian Response.
48. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
49. Compilation of Genotype and Phenotype Data in GCDH -LOVD for Variant Classification and Further Application.
50. [Genetic diagnostics and molecular approaches in pulmonary arterial hypertension].
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