121 results on '"Peters, Hartmut"'
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2. Monozygotic Twins with Neurofibromatosis Type 1 (NF1) Display Differences in Methylation of NF1 Gene Promoter Elements, 5' Untranslated Region, Exon and Intron 1
3. Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation-Expanding the Phenotypic Spectrum
4. Pathways of Nordic Overflows from climate model scale and eddy resolving simulations
5. Performance of two-equation turbulence closures in three-dimensional simulations of the Red Sea overflow
6. Very large eddy simulation of the Red Sea overflow
7. Improving oceanic overflow representation in climate models: the gravity current entrainment climate process team
8. Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
9. Validating a turbulence closure against estuarine microstructure measurements
10. Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families
11. Parameterization of gravity current entrainment for ocean circulation models using a high-order 3D nonhydrostatic spectral element model
12. Deletions of the RUNX2 Gene Are Present in About 10% of Individuals with Cleidocranial Dysplasia
13. Spatial and temporal variability of turbulent mixing in an estuary
14. The gene for cherubism maps to chromosome 4p16
15. A New Autosomal Recessive Syndrome Characterized by Ocular Hypertelorism, Distinctive Face, Mental Retardation, Brachydactyly, and Genital Abnormalities
16. Comparison of gravity current mixing parameterizations and calibration using a high-resolution 3D nonhydrostatic spectral element model
17. Cherubism – new hypotheses on pathogenesis and therapeutic consequences
18. Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation
19. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
20. Hay-Wells syndrome in a child with mutation in the TP73L gene
21. Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene
22. Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification
23. Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain
24. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
25. Fibrodisplasia osea familiar. Querubismo
26. Turbulence and high-frequency variability in a deep gravity current outflow.
27. Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
28. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
29. Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23).
30. Numerical Simulation of the Red Sea Outflow Using HYCOM and Comparison with REDSOX Observations.
31. Turbulence in the wintertime northern Adriatic Sea under strong atmospheric forcing.
32. Bottom Layer Turbulence in the Red Sea Outflow Plume.
33. Somali Current rings in the eastern Gulf of Aden.
34. Equilibration and Circulation of Red Sea Outflow Water in the Western Gulf of Aden.
35. Mixing and Entrainment in the Red Sea Outflow Plume. Part II: Turbulence Characteristics.
36. Mixing and Entrainment in the Red Sea Outflow Plume. Part I: Plume Structure.
37. Turbulence Closure, Steady State, and Collapse into Waves.
38. Broadly Distributed and Locally Enhanced Turbulent Mixing in a Tidal Estuary.
39. Turbulent Mixing in the Red Sea Outflow Plume from a High-Resolution Nonhydrostatic Model.
40. Gulf of Aden eddies and their impact on Red Sea Water.
41. Very High-Frequency Radar Mapping of Surface Currents.
42. Microstructure Observations of Turbulent Mixing in a Partially Mixed Estuary. Part II: Salt Flux and Stress.
43. Second-moment closures and length scales for weakly stratified turbulent shear flows.
44. On the parameterization of equatorial turbulence: Effect of fine-scale variations below the range of the diurnal cycle.
45. Detail and scaling of turbulent overturns in the Pacific Equatorial Undercurrent.
46. The diurnal cycle of the upper equatorial ocean: Turbulence, fine-scale shear, and mean shear.
47. Equatorial and off-equatorial fine-scale and large-scale shear variability at 140°W.
48. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1).
49. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
50. Hay-Wells-Syndrom bei einem Kind mit Mutation auf dem Gen TP73L.
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