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134 results on '"Cremer, K."'

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2. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

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3. The effect of surgical strategy in difficult cholecystectomy cases on postoperative complications outcome:a value-based healthcare comparative study

4. Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review

7. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

8. De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

9. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

11. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

12. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

13. Short-Term Effect of Pollen and Spore Exposure on Allergy Morbidity in the Brussels-Capital Region

14. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

15. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

16. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

17. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

18. Short-term health effects following a major train accident with acrylonitrile in Belgium

20. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21. Update on Kleefstra Syndrome

23. Update on Kleefstra Syndrome

25. In vitro suppression of UAG and UGA mutants in the thymidine kinase gene of herpes simplex virus.

26. Immunization with a vaccinia virus recombinant expressing herpes simplex virus type 1 glycoprotein D: long-term protection and effect of revaccination

27. Cell-free synthesis of herpes simplex virus proteins

28. Characterization of the mRNA for herpes simplex virus thymidine kinase by cell-free synthesis of active enzyme.

31. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

32. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

33. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

34. Noninvasive integrative approach applied to children in the context of recent air pollution exposure demonstrates association between fractional exhaled nitric oxide (FeNO) and urinary CC16.

35. SARS-CoV-2 Transmission in Belgian French-Speaking Primary Schools: An Epidemiological Pilot Study.

36. Urinary CC16, a potential indicator of lung integrity and inflammation, increases in children after short-term exposure to PM 2.5 /PM 10 and is driven by the CC16 38GG genotype.

37. Assessment of the Feasibility of a Future Integrated Larger-Scale Epidemiological Study to Evaluate Health Risks of Air Pollution Episodes in Children.

38. Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.

39. Implant functionalization with mesoporous silica: A promising antibacterial strategy, but does such an implant osseointegrate?

40. Development of a multiplex mass spectrometry method for simultaneous quantification of urinary proteins related to respiratory health.

41. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

42. Repurposing the Antidepressant Sertraline as SHMT Inhibitor to Suppress Serine/Glycine Synthesis-Addicted Breast Tumor Growth.

43. Regulation of PD-L1 expression in K-ras-driven cancers through ROS-mediated FGFR1 signaling.

44. Gender-dependent association between exhaled nitric oxide and the CC16 38AA genotype in young school children.

45. Combination of Miconazole and Domiphen Bromide Is Fungicidal against Biofilms of Resistant Candida spp.

46. The antifungal plant defensin HsAFP1 induces autophagy, vacuolar dysfunction and cell cycle impairment in yeast.

47. Weight and head circumference at birth in function of placental paraben load in Belgium: an ENVIRONAGE birth cohort study.

48. Selection of a Noninvasive Source of Human DNA Envisaging Genotyping Assays in Epidemiological Studies: Urine or Saliva?

49. PEDIA: prioritization of exome data by image analysis.

50. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.