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375 results on '"MICROCEPHALY"'

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2. Epistatic interactions between NMD and TRP53 control progenitor cell maintenance and brain size

4. Regulation of p53 by the mitotic surveillance/stopwatch pathway: implications in neurodevelopment and cancer.

5. Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.

6. A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.

7. A long way to syndromic short stature.

8. A Boy With KIF11‐Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry.

9. Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

10. Fetal Zika virus inoculation in macaques revealed control of the fetal viral load during pregnancy.

11. Evaluation of Patients with Cockayne Syndrome.

12. Oropouche Virus (OROV) in Pregnancy: An Emerging Cause of Placental and Fetal Infection Associated with Stillbirth and Microcephaly following Vertical Transmission.

13. A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey.

14. Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.

15. Epilepsy as a Novel Phenotype of BPTF-Related Disorders.

16. A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.

17. Neurodevelopmental disorder associated with gene ARF3: A case report.

18. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

19. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.

20. Entosis implicates a new role for P53 in microcephaly pathogenesis, beyond apoptosis.

21. Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

22. Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.

23. Evaluation of Patients with Cockayne Syndrome

24. Fetal Zika virus inoculation in macaques revealed control of the fetal viral load during pregnancy

25. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report

26. Microcephaly in Infants: A Retrospective Cohort Study from Turkey

27. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

28. Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.

29. Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review.

30. Zika Virus Neuropathogenesis—Research and Understanding.

31. Ascending Weakness in a Girl With Persistent Lactic Acidosis.

32. Serious Concern of Congenital Zika Syndrome (CZS) in India: A Narrative Review.

33. Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.

34. Intranasal Immunization for Zika in a Pre-Clinical Model.

35. Microcephaly in Infants: A Retrospective Cohort Study from Turkey.

36. Congenital anomalies during Covid-19: artifact of surveillance or a real TORCH?

37. Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.

38. A large and diverse brain organoid dataset of 1,400 cross-laboratory images of 64 trackable brain organoids.

39. Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.

40. ATP-P2X7 signaling mediates brain pathology while contributing to viral control in perinatal Zika virus infection.

41. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

42. Microcephaly Gene Mcph1 Deficiency Induces p19ARF-Dependent Cell Cycle Arrest and Senescence.

43. Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.

44. Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome.

45. DYRK1A interacts with the tuberous sclerosis complex and promotes mTORC1 activity

47. Schizencephaly

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