162 results on '"Hanefeld, F."'
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2. Alexander disease: past and present
3. Baló’s concentric sclerosis associated with primary human herpesvirus 6 infection
4. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
5. MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution
6. Anoxic ATP depletion in neonatal mice brainstem is prevented by creatine supplementation
7. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28
8. Not-so-Simple Minds
9. Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis
10. MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin
11. MECP2 analysis in possible familial Rett syndrome
12. Foix–Chavany–Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome
13. Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers
14. Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations
15. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man
16. Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.
17. Infantile spasms: CSF proteins before and during treatment with ACTH
18. Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis
19. AT-related disorder
20. Febrile Convulsions and Blood-Cerebrospinal Fluid Barrier
21. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
22. Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
23. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
24. Histochemische Untersuchungen bei experimenteller Nervendurchtrennung
25. Aminophylline modulation of the mouse respiratory network changes during postnatal maturation
26. Foix‐Chavany‐Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster‐Drought syndrome
27. Increase of total creatine in human brain after oral supplementation of creatine-monohydrate
28. Creatine Protects the Central Respiratory Network of Mammals under Anoxic Conditions
29. S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements
30. The Response To Hypoxia is Affected By Creatine in the Central Respiratory Network of Mammals 251
31. Hemimegalencephaly: Localized Proton Magnetic Resonance Spectroscopy In Vivo
32. Creatine Deficiency in the Brain: A New, Treatable Inborn Error of Metabolism
33. Severe Hepatotoxicity During Valproate Therapy: An Update and Report of Eight New Fatalities
34. Recombinant DNA studies of X-linked muscular dystrophies
35. Identification of a new DMD gene deletion by ectopic transcript analysis.
36. Histochemische Untersuchungen zum Verteilungsmuster oxydativer Enzyme in Gliomen
37. Nachweis und Verteilung der hydrolytischen Enzyme β-d-Glucuronidase, β-d-Galactosidase, β-d-Glucosidase und Arylsulfatase in intracraniellen Tumoren
38. Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.
39. AT-related disorder.
40. Congenital adrenal hyperplasia.
41. Primarily chronic and cerebrovascular course of Lyme neuroborreliosis: case reports and literature review
42. Recurrent optic neuritis associated with Chlamydia pneumoniae infection of the central nervous system.
43. Effects of Riboflavin on Gunn Rats under Phototherapy
44. Infantile spasms: CSF proteins before and during treatment with ACTH.
45. Evaluation of bilirubin cytotoxicity and phototherapy in baby Gnnn rats by histochemical enzyme marking of Purkinje cells
46. CONGENITAL MYOPATHY IN LOWE' SYNDROME
47. 73: Increased kernicterus rate in homozygous Gunn rats after application of different antibiotics
48. Riboflavin and phototherapy in Gunn rats
49. CSF Protein Profile in Infantile Spasms. Influence of Etiology and ACTH or Dexamethasone Treatment
50. THE CSF-PROTEIN PATTERNS IN CHILDREN WITH ACUTE CEREBELLAR ATAXIA AND WITH MEDULLOBLASTOMAS
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