154 results on '"Gabreëls, F. J. M"'
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2. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
3. A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
4. Congenital muscular dystrophy and severe central nervous system atrophy in two siblings
5. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
6. Peripheral nerve elongation by laser Doppler flowmetry controlled expansion: morphological aspects
7. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies
8. Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy?: Diagnostic value of morphological criteria
9. The relation between neurological trauma parameters and long-term outcome in children with closed head injury
10. Congenital muscular dystrophy: A study on the variability of morphological changes and dystrophin distribution in muscle biopsies
11. Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases
12. Histology of hereditary neuralgic amyotrophy
13. Dermoïdcyste op het hoofd; denk aan cerebrale uitbreiding
14. Neuropathological findings in muscle-eye-brain disease (MEB-D): Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type
15. A systematic review for evidence of efficacy of anticholinergic drugs to treat drooling
16. Polyglucosan bodies in sural nerve biopsies
17. Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1
18. Erfolgreiche Therapie einer mitochondrialen Myopathie (Komplex-I-Defizienz) und motorischen Neuropathie mit L-Karnitin und Riboflavin
19. Effect of Thymectomy on Myasthenia Gravis and Autoimmune Thrombocytopenic Purpura in a 13-Year-Old Girl
20. Blood and CSF Concentration of Fuel Related Components in Children After Prolonged Fasting
21. Lafora Disease: Diagnosis and Carrier Detection
22. Clinical and Metabolic Aspects of Leigh Syndrome
23. Polyglucosan bodies in intramuscular motor nerves
24. Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain
25. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q
26. Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins
27. Pharmacokinetics of di-n-propylacetate in epileptic patients
28. The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease
29. Undulating Peripheral Edema with Neurological Syndrome in Two Children
30. Dihydrothymine Dehydrogenase Deficiency: A Cause of Cerebral Dysfunction?
31. Cerebrospinal neuron-specific enolase, S-100 and myelin basic protein in neurological disorders
32. Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy
33. ASSESSMENT OF POST-TRAUMATIC AMNESIA IN YOUNG CHILDREN
34. Hypokinesia and Rigidity as Clinical Manifestations of Mitochondrial Encephalomyopathy: Report of Three Cases
35. AN X-LINKED SYNDROME WITH MICROCEPHALY, SEVERE MENTAL RETARDATION, SPASTICITY, EPILEPSY AND DEAFNESS
36. Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs
37. MECP2 Mutation in a Boy with Severe Neonatal Encephalopathy: Clinical, Neuropathological and Molecular Findings
38. Scheie Syndrome Presenting as Myopathy
39. Idiopathic Neuralgic Amyotrophy in Children. A Distinct Phenotype Compared to the Adult Form
40. Recurrent Alternating Facial Paralysis and Malignant Hypertension
41. Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
42. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies
43. Maximum Performance Tests in Children With Developmental Spastic Dysarthria
44. Antihypertensive treatment during pregnancy and functional development at primary school age in a historical cohort study.
45. Adult polyglucosan body disease: The diagnostic value of axilla skin biopsy
46. HEREDITARY MOTOR AND SENSORY NEUROPATHY OF NEURONAL TYPE WITH ONSET IN EARLY CHILDHOOD
47. CONVERSION DISORDERS IN CHILDHOOD: A RETROSPECTIVE FOLLOW‐UP STUDY OF 84 INPATIENTS
48. CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS
49. Botulinum toxin effect on salivary flow rate in children with cerebral palsy.
50. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
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