1,804 results on '"Zenker, Martin"'
Search Results
2. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
3. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
4. Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice
5. A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
6. Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling
7. Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
8. Prediction of anastomotic insufficiency based on the mucosal microbiome prior to colorectal surgery: a proof-of-principle study
9. Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
10. Krebserkrankungen bei Menschen mit einer Intelligenzminderung in Deutschland: Prävalenzen, Genetik und Versorgungslage
11. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
12. Unusual phenotypes in patients with a pathogenic germline variant in DICER1
13. The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
14. Bifidobacteria shape antimicrobial T-helper cell responses during infancy and adulthood
15. Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues
16. Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancer
17. In-vitro-Modellierung der Noonan-Syndrom-assoziierten Kardiomyopathie: Neue Einblicke in die myokardiale Pathophysiologie und Effekte der Inhibition des hyperaktiven RAS/MAPK-Signalwegs
18. Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events
19. C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
20. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
21. Clinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol
22. KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
23. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
24. The sixth international RASopathies symposium: Precision medicine-From promise to practice.
25. Differential methylation of OPRK1 in borderline personality disorder is associated with childhood trauma
26. Developmental effect of RASopathy mutations on neuronal network activity on a chip
27. DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning
28. Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
29. Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children
30. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
31. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
32. Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
33. Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.
34. Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
35. Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists
36. European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
37. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
38. Cancer Risk and Spectrum in Individuals with RASopathies
39. The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
40. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
41. Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
42. Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
43. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
44. Somatic RIT1 indels identified in arteriovenous malformations hyperactivate RAS-MAPK signaling and are amenable to MEK inhibition
45. Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup
46. GGC expansion in ZFHX3 causes SCA4 and impairs autophagy
47. Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication
48. Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
49. Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
50. Genetic basis of hypertrophic cardiomyopathy in children
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.