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2. Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

5. Treatment of ARS deficiencies with specific amino acids

6. Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns

8. Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling

9. Novel Epac fluorescent ligand reveals distinct Epac1 vs. Epac2 distribution and function in cardiomyocytes

10. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

12. Interaction of Epac with Non-canonical Cyclic Nucleotides

13. Macrocephaly and developmental delay caused by missense variants in RAB5C

16. Macrocephaly and developmental delay caused by missense variants in RAB5C

17. A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

18. Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

25. FER regulates endosomal recycling and is a predictor for adjuvant taxane benefit in breast cancer

32. CheckNano:nanoparticle detection and sizing

34. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

40. Abstract LB203: FER regulates endosomal recycling and is a candidate predictor for taxane benefit in breast cancer

41. Structure of Epac2 in complex with a cyclic AMP analogue and RAP1B

43. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

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

45. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

46. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

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

48. Treatment of ARS deficiencies with specific amino acids

49. Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns

50. Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling

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