664 results on '"Bartsch, Oliver"'
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2. Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer.
3. FGFR1 variants contributed to families with tooth agenesis
4. Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature
5. The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
6. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
7. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
8. Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement
9. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
10. Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
11. Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
12. First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
13. Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer
14. Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
15. The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
16. Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication
17. Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2
18. Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination—A Retrospective Observation
19. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
20. Microdeletion Syndromes
21. Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6
22. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6
23. Deletion of 22q13
24. Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
25. Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li–Fraumeni syndrome
26. A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12
27. An Autoinhibitory Domain Confers Redox Regulation to Maize Glycerate Kinase
28. Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
29. Pädaudiologische Versorgung bei Langer-Giedion-Syndrom
30. FGFR2 mutation in 46,XY sex reversal with craniosynostosis
31. Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations
32. Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema
33. High incidence of extraadrenal paraganglioma in families with SDHx syndromes detected by functional imaging with [18F]fluorodihydroxyphenylalanine PET
34. The original family revisited after 37 years: odontoma–dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genes
35. Additional file 2 of First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
36. Additional file 3 of First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
37. Additional file 1 of First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
38. Small supernumerary marker chromosome (sSMC) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism
39. Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism
40. Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum
41. NDST1 missense mutations in autosomal recessive intellectual disability
42. Phenotypic Variability and Risk of Malignancy in SDHC-Linked Paragangliomas: Lessons From Three Unrelated Cases With an Identical Germline Mutation (p.Arg133*)
43. Bedeutung der humangenetischen Hördiagnostik bei geringgradigen kindlichen Schwerhörigkeiten am Beispiel des Schwerhörigkeit-Infertilitäts-Syndroms
44. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
45. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
46. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS
47. A Highly Specific Assay for the Detection of SARS-CoV-2–Reactive CD4+ and CD8+ T Cells in COVID-19 Patients
48. Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report
49. Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant
50. Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13
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