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1. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

4. Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

10. An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies

11. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

15. Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients

16. Biallelic variants in YRDC cause a developmental disorder with progeroid features

19. Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

20. Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

22. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

23. Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion, and drug screening

24. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

26. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

27. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

28. PEDIA: prioritization of exome data by image analysis

29. 3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes.

30. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

31. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

32. Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes

33. Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy

34. HACE1 deficiency leads to structural and functional neurodevelopmental defects

37. LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

38. Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

39. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

40. Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

41. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

42. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

43. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

44. Mutationen in ATP1A3, TECTA und MYO7A in einer Familie mit Rapid-onset Dystonia-Parkinsonism-Syndrom, mediocochleärer Schallempfindungsschwerhörigkeit und auditorischer Neuropathie – die systematische Multigen-Panel-Untersuchung hilft bei der Analyse von komplexen Fällen von Schwerhörigkeit

45. WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly

46. TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer

47. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

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