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49 results on '"Marey I"'

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1. Weaning from mechanical ventilation in intensive care units across 50 countries (WEAN SAFE): a multicentre, prospective, observational cohort study

2. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

3. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

5. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

7. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

8. Developmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcome

9. Developmental and symptom profiles in early-onset psychosis

12. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

15. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

16. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

17. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

18. Homozygous mutation in <italic>ELMO2</italic> may cause Ramon syndrome.

19. Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

22. P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders

23. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

24. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

25. Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study.

26. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

27. Growth charts in DYRK1A syndrome.

28. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

29. Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis.

30. Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report.

31. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.

32. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

33. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

34. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

35. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.

36. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

37. Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

38. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

39. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

40. A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

41. Anthropometric charts and congenital anomalies in newborns with Down syndrome.

42. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

43. Acute Regression in Young People with Down Syndrome.

44. Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome.

45. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

46. Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

47. Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.

48. Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

49. Craniosynostosis: A rare complication of pycnodysostosis.

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