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1. NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

2. In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors

3. Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

4. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

5. Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup

6. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

8. Fetal methotrexate syndrome: A systematic review of case reports

9. Assessment of parental mosaicism in SCN1A -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

10. Identification of human D lactate dehydrogenase deficiency

11. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

12. Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents

13. GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

14. EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

15. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

16. ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

17. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

18. Genetic obesity: Next-generation sequencing results of 1230 patients with obesity

19. Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

20. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

21. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

22. Analysis of shared heritability in common disorders of the brain

23. Cantu syndrome-Associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-offunction by differential mechanisms

24. The ontogeny of Robin sequence

25. Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

26. Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients

27. Further delineation of the GDF6 related multiple synostoses syndrome

28. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

29. Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

30. PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression

31. Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

32. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

33. Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

34. Mechanisms of therapy resistance in patient-derived xenograft models of brca1-deficient breast cancer

35. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

36. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

37. 52 Genetic Loci Influencing Myocardial Mass

38. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

39. Tissue-specific mutation accumulation in human adult stem cells during life

40. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

41. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

42. Epigenomic annotation of gene regulatory alterations during evolution of the primate brain

43. Deficiency or inhibition of lysophosphatidic acid receptor 1 protects against hyperoxia-induced lung injury in neonatal rats

44. Generation and characterization of rat liver stem cell lines and their engraftment in a rat model of liver failure

45. Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material

46. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

47. Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population

48. KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

49. Lack of Major Genome Instability in Tumors of p53 Null Rats

50. Rb and FZR1/Cdh1 determine CDK4/6-cyclin D requirement in C. elegans and human cancer cells

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