35 results on '"Ohlenbusch, Andreas"'
Search Results
2. A novel remitting leukodystrophy associated with a variant in FBP2
3. Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
4. Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G inATM
5. Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
6. Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
7. „Vanishing white matter disease“ im Erwachsenenalter
8. Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome
9. Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
10. Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine
11. Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia
12. Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
13. A unique chromosomal in-frame deletion identified among seven XP-C patients
14. Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene
15. Clinical utility gene card for: Zellweger syndrome spectrum
16. A novel ATP1A3 mutation with unique clinical presentation
17. Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders
18. Acute onset of adult Alexander disease
19. Characterization of Three XPG-Defective Patients Identifies Three Missense Mutations that Impair Repair and Transcription
20. Functional and molecular genetic analyses of nine newly identified XPD‐deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes
21. Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations
22. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
23. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
24. Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study
25. Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients
26. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
27. Live Cell FRET Microscopy
28. Identification of ten novel mutations in patients with eIF2B-related disorders
29. Mutation analysis of theHDAC 1,2,8 andCDKL5 genes in Rett syndrome patients without mutations inMECP2
30. Myelin Oligodendrocyte Gene Polymorphisms and Childhood Multiple Sclerosis
31. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia
32. Genospecies Diversity of Lyme Disease Spirochetes in Rodent Reservoirs
33. Identical mitochondrial DNA in monozygotic twins with discordant adrenoleukodystrophy phenotype
34. POINT MUTATIONS AND NUCLEOTIDE INSERTIONS IN THE MDM2 ZINC FINGER STRUCTURE OF HUMAN TUMOURS
35. Antiquity of the Lyme-disease spirochaete in Europe
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