1,429 results on '"Rolfs, Arndt"'
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2. Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency
3. Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
4. 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
5. Genetic study of early-onset Parkinson's disease in the Malaysian population
6. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
7. A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
8. Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
9. Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features
10. Radiomics-Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke
11. Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments.
12. Association of Stroke Lesion Pattern and White Matter Hyperintensity Burden With Stroke Severity and Outcome
13. Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children
14. Venglustat in GBA1-related Parkinson's disease
15. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
16. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
17. Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.
18. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
19. HAE patient self-sampling for biomarker establishment
20. Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas
21. Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
22. A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
23. 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
24. Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease
25. Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes
26. Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
27. Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations
28. Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
29. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
30. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
31. Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility
32. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
33. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
34. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability
35. Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease
36. Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions
37. Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing
38. Contribution of lyso-Gb1 to treatment decisions in patients with Gaucher disease
39. Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants
40. Secondary findings in a large Pakistani cohort tested with whole genome sequencing
41. Diagnostic tardiv de tulburare de spectru autist şi sindrom Sotos la un pacient cu simptomatologie atipică în copilăria timpurie
42. Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease
43. Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA
44. Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches
45. 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
46. Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study
47. Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
48. A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1
49. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
50. Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice
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