385 results on '"Rolfs, Arndt"'
Search Results
2. Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children
3. Venglustat in GBA1-related Parkinson's disease
4. Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency
5. Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study
6. Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease
7. Genetic study of early-onset Parkinson's disease in the Malaysian population
8. Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease
9. Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
10. Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions
11. Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing
12. Contribution of lyso-Gb1 to treatment decisions in patients with Gaucher disease
13. Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants
14. Secondary findings in a large Pakistani cohort tested with whole genome sequencing
15. Diagnostic tardiv de tulburare de spectru autist şi sindrom Sotos la un pacient cu simptomatologie atipică în copilăria timpurie
16. Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease
17. Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA
18. Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches
19. How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years
20. Radiomics-Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke
21. A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease—Identifying Those at the Greatest Risk
22. Association of Stroke Lesion Pattern and White Matter Hyperintensity Burden With Stroke Severity and Outcome
23. Secondary findings in a large Pakistani cohort tested with whole genome sequencing
24. Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
25. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
26. A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
27. Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome
28. L’âge cérébral radiomique prédit le pronostic fonctionnel après un avc ischémique.
29. Defining the role of Lyso-Gb1 as a biomarker over 12 months after first initiation of enzyme replacement therapy in patients with Gaucher disease in LYSO-PROVE study
30. Gaucher disease diagnosis using lyso-Gb1 on dry blood spot samples: Seven years of experience
31. Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
32. A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
33. Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report
34. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
35. Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features
36. Lesions in putative language and attention regions are linked to more severe strokes in patients with higher white matter hyperintensity burden
37. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
38. HAE patient self-sampling for biomarker establishment
39. Radiomics Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke
40. A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
41. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
42. Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations
43. MRI Radiomic Signature of White Matter Hyperintensities Is Associated With Clinical Phenotypes
44. Specific Detection of Legionella in Samples from Patients with Community-Acquired Pneumonia by PCR and a Colorimetric Detection System (Reverse Dot Blot)
45. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
46. Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1
47. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
48. Impact of long-term enzyme replacement therapy on Lyso-Gb1 in patients with Gaucher disease: Comparison between 3 enzymatic formulations
49. MRI Radiomic Signature of White Matter Hyperintensities Is Associated with Clinical Phenotypes
50. PDA Indolylmaleimides Induce Anti-Tumor Effects in Prostate Carcinoma Cell Lines Through Mitotic Death
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