79 results on '"Hinderhofer, Katrin"'
Search Results
2. Genetische Diagnostik und molekulare Ansätze bei pulmonalarterieller Hypertonie
3. SMAD5 as a novel gene for familial pulmonary arterial hypertension
4. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
5. Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients?
6. X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
7. Alanine Aminotransferase Deficiency in a Patient With Hyperferritinemia, Steatosis Hepatis, and Hepatosplenomegaly
8. Lysozyme amyloidosis—a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant
9. Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?
10. Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension
11. Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression
12. Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation
13. Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
14. Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes
15. Germ cell mosaicism forAUTS2exon 6 deletion
16. Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience
17. A boy with Silver – Russell syndrome and Sotos syndrome
18. BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients
19. Quantitative retrospective natural history modeling for orphan drug development
20. Genetic findings in patients with different forms of pulmonary hypertension
21. Author Correction: NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD
22. NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD
23. Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study
24. Genetic Predisposition to High-Altitude Pulmonary Edema
25. Molecular Cell Biology: Mechanisms and Regulation of Protein Import into the Plant Cell Nucleus
26. Genetic diagnostics in patients with chronic thromboembolic pulmonary hypertension
27. Mutually reinforcing effects of genetic variants and interferon‐β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients
28. New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing
29. The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1
30. Mutations in the bone morphogenic protein receptor 2 promoter in heritable pulmonary arterial hypertension
31. Common genetic basis for pulmonary arterial hypertension and high altitude pulmonary edema
32. FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve
33. FMR1 and AKT/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells
34. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
35. Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data
36. Critical appraisal of genotype assessment in molybdenum cofactor deficiency
37. First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension
38. Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
39. Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature
40. Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye
41. First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension
42. DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome
43. Novel recurrent chromosomal aberrations detected in clonal plasma cells of light chain amyloidosis patients show potential adverse prognostic effect: first results from a genome-wide copy number array analysis
44. Marker chromosomes can arise from chromothripsis and predict adverse prognosis in acute myeloid leukemia
45. Asymptomatic Multiple Myeloma – Molecular Background of Progression and Prognosis
46. Asymptomatic Multiple Myeloma - Background of Progression, Evolution, and Prognosis
47. EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension
48. Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool
49. Clinical manifestation of hereditary pulmonary arterial hypertension by a "second hit" mutation in the genesBMPR2andEIF2AK4
50. A new molecular genetic diagnostic approach for pulmonary arterial hypertension
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.