497 results on '"Schwartz, Marianne"'
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2. The Micro-excavation and Conservation of Highly Degraded Objects from Fregerslev II
3. Mitochondrial DNA Variant 11719G Is a Marker for the mtDNA Haplogroup Cluster HV
4. Wood, Seeds and Fruits, Phytoliths, Pollen and Non-pollen Palynomorphs of the Horse Burial of Fregerslev II
5. Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation
6. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
7. Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material
8. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
9. Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
10. Muscle structural changes in mitochondrial myopathy relate to genotype
11. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
12. Paternal inheritance of mitochondrial DNA
13. Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation
14. LIMITED DIAGNOSTIC VALUE OF ENZYME ANALYSIS IN PATIENTS WITH MITOCHONDRIAL TRNA MUTATIONS
15. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male
16. High Prevalence of Impaired Glucose Homeostasis and Myopathy in Asymptomatic and Oligosymptomatic 3243A>G Mitochondrial DNA Mutation-Positive Subjects
17. Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
18. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease
19. High-resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease
20. Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer
21. Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing
22. Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV
23. Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood
24. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
25. Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy With Dialysis
26. Deletion of Exon 16 of the Dystrophin Gene Is Not Associated With Disease
27. High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study
28. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy
29. Muscle Phenotype and Mutation Load in 51 Persons With the 3243A>G Mitochondrial DNA Mutation
30. Impaired Cognitive Function in Women with Congenital Adrenal Hyperplasia
31. 394delTT: a Nordic cystic fibrosis mutation
32. Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3–p11.22 region
33. Hypertrichosis in Patients with SURF1 Mutations
34. Analysis of 65 Tuberous Sclerosis Complex (TSC) Patients by TSC2 DGGE, TSC1/TSC2 MLPA, andTSC1 Long-Range PCR Sequencing, and Report of 28 Novel Mutations
35. dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations – Summary of the first 100 Sotos Syndrome Mutations
36. No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations
37. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study
38. X-Linked High Myopia Associated With Cone Dysfunction
39. Recombination of Human Mitochondrial DNA
40. Microsatellite analysis of urine sediment versus urine cytology for diagnosing transitional cell tumors of the urinary bladder
41. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family
42. DXS26 (HU16) is located in Xq21.1
43. Paternal Inheritance of Mitochondrial DNA
44. Brief Report: Paternal Inheritance of Mitochondrial DNA
45. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
46. Incidence of Cystic Fibrosis at the Faroe Islands
47. Late onset of stroke-like episode associated with a 3256C→T point mutation of mitochondrial DNA
48. New patterns of inheritance in mitochondrial disease
49. Preserved Male Fertility Despite Decreased Androgen Sensitivity Caused by a Mutation in the Ligand-Binding Domain of the Androgen Receptor Gene*
50. Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation
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