1,492 results on '"Prokisch, Holger"'
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2. Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
3. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
4. Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
5. Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
6. Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle
7. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
8. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
9. Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
10. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
11. Aberrant splicing prediction across human tissues
12. Neonatal lactic acidosis explained by LARS2 defect
13. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
14. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
15. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
16. Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis
17. Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism
18. Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
19. Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
20. Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
21. Author Correction: Detection of aberrant splicing events in RNA-seq data using FRASER
22. Network reconstruction for trans acting genetic loci using multi-omics data and prior information
23. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
24. Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function
25. Multi‐omics in MECP2 duplication syndrome patients and carriers
26. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
27. Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology
28. Multi-omics in MECP2 duplication syndrome patients and carriers.
29. Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
30. NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
31. A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse
32. Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure
33. Identification of a Novel m.3955G>A Variant in MT-ND1 Associated with Leigh Syndrome
34. Genetic landscape of pediatric acute liver failure of indeterminate origin
35. A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
36. Genetic Basis of Mitochondrial Cardiomyopathy
37. Mitochondrial Disease Genetics
38. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
39. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review
40. Monogenic variants in dystonia: an exome-wide sequencing study
41. New Cases of Maleylacetoacetate Isomerase Deficiencywith Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
42. The Interpretable Multimodal Machine Learning (IMML) framework reveals pathological signatures of distal sensorimotor polyneuropathy
43. New insights into idebenone therapy in relation to NQO1
44. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
45. Detection of aberrant gene expression events in RNA sequencing data
46. Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia
47. Meta-analyses identify DNA methylation associated with kidney function and damage
48. Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus
49. Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
50. Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseases
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