479 results on '"Ullmann, Reinhard"'
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2. Gene expression changes and DNA damage after ex vivo exposure of peripheral blood cells to various CT photon spectra
3. Gene Expression Analysis in Human Peripheral Blood Cells after 900 MHz RF-EMF Short-Term Exposure
4. 'SLC2A3' Single-Nucleotide Polymorphism and Duplication Influence Cognitive Processing and Population-Specific Risk for Attention-Deficit/Hyperactivity Disorder
5. Exploring the Link between Radiation Exposure and Multifocal Basal Cell Carcinomas in a Former Chernobyl Clean-up Worker by Combining Different Molecular Biological Techniques
6. CT Irradiation-induced Changes of Gene Expression within Peripheral Blood Cells
7. Initial experience on abdominal photon-counting computed tomography in clinical routine: general image quality and dose exposure
8. High-Throughput Sequencing - a Versatile Tool for the Detection of Radiation-induced DNA Damage
9. Array Comparative Genomic Hybridization in Pathology
10. Array Comparative Genomic Hybridization in Pathology
11. Epilepsy and Mental Retardation Limited to Females: An Under-Recognized Disorder
12. Gene expression for biodosimetry and effect prediction purposes : promises, pitfalls and future directions – key session ConRad 2021
13. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
14. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
15. Impact of medical imaging on the epigenome – Low-dose exposure in the course of computed tomography does not induce detectable changes of DNA-methylation profiles in peripheral blood cells
16. Gene expression for biodosimetry and effect prediction purposes: promises, pitfalls and future directions – key session ConRad 2021
17. Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients
18. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
19. A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1
20. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
21. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
22. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
23. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
24. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
25. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
26. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
27. A defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2)is associated with autosomal recessive mental retardation
28. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
29. Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?
30. Genomic Adaption and Mutational Patterns in a HaCaT Subline Resistant to Alkylating Agents and Ionizing Radiation
31. Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study
32. Bronchiolar columnar cell dysplasia—genetic analysis of a novel preneoplastic lesion of peripheral lung
33. Identification of a New Gene Involved in IHH and Ataxia by Positional Cloning in a Patient with a Balanced Translocation t(3;12)(p13;p13)
34. Impact of medical imaging on the epigenome – low-dose exposure in the course of computed tomography does not induce detectable changes of DNA-methylation profiles in peripheral blood cells.
35. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
36. Christianson syndrome in a patient with an interstitial Xq26.3 deletion
37. Deep sequencing reveals 50 novel genes for recessive cognitive disorders
38. Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast
39. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
40. Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia
41. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip
42. A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q
43. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
44. 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features
45. Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome
46. Prognostic relevance of TLX3 (HOX11L2) expression in childhood T-cell acute lymphoblastic leukaemia treated with Berlin–Frankfurt–Münster (BFM) protocols containing early and late re-intensification elements
47. Case Report Supporting That the Barber–Say and Ablepharon Macrostomia Syndromes Could Represent One Disorder
48. Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24
49. Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young
50. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis
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