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327 results on '"Fernando Kok"'

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1. Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

2. Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool

3. Pediatric palliative care for metabolic diseases: 20‐year epidemiological survey of outpatients at a Brazilian quaternary hospital

4. A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

5. Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report

6. Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?

7. An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report

8. Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

9. Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia—Occam’s razor or Hickam’s dictum: a case report

10. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

11. Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

12. Two different presentations of de novo variants of CSNK2B: two case reports

13. Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

14. Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias

15. Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype

16. Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

18. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

19. Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up

20. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

21. The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

22. Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG

23. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

24. Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

25. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

26. Imaging of adult leukodystrophies

29. Encefalite anti-receptor N-metil-D-aspartato na infância

30. Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs

31. Joubert syndrome: large clinical variability and a unique neuroimaging aspect Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica

32. Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN) Avaliação motora e funcional de pacientes com paraplegia espástica, atrofia óptica e neuropatia (SPOAN)

33. Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

34. Autosomal recessive ataxias: 20 types, and counting Ataxias autossômicas recessivas: 20 tipos e muito mais

35. Genotype-phenotype correlation in Brazillian Rett syndrome patients Correlação genótipo-fenótipo em pacientes brasileiras com síndrome de Rett

36. Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype

37. Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis

38. Schwartz-jampel syndrome: report of five cases

39. Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene

40. Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva

41. Seroprevalence of NMO-IgG antibody in Brazilian patients with neuromyelitis optica Soroprevalência do anticorpo NMO-IgG em pacientes brasileiros com neuromielite óptica

43. Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

48. Síndrome da criança espancada: aspectos neurológicos em 7 casos

49. High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

50. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

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