205 results on '"Ahrens-Nicklas, Rebecca C."'
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2. Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model
3. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
4. Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
5. Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing
6. A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
7. Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy
8. Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
9. Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
10. Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects
11. Improved specificity and efficacy of base-editing therapies with hybrid guide RNAs
12. Lmod2 is necessary for effective skeletal muscle contraction
13. Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
14. Genotype–phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines
15. Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.
16. Postnatal Arx transcriptional activity regulates functional properties of PV interneurons
17. Genetic variant burden and adverse outcomes in pediatric cardiomyopathy
18. NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders
19. Clinical utility of exome sequencing in infantile heart failure
20. Biochemical signatures of disease severity in multiple sulfatase deficiency.
21. Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy.
22. Biochemical signatures of disease severity in multiple sulfatase deficiency
23. Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy
24. Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
25. A novel iPSC model reveals selective vulnerability of neurons in Multiple Sulfatase Deficiency
26. Electrocardiographic Findings in Genotype-Positive and Non-sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers
27. High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs
28. Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement
29. A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant
30. Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level
31. Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
32. Stimulation of entorhinal cortex–dentate gyrus circuitry is antidepressive
33. Biomarkers of disease severity in multiple sulfatase deficiency
34. Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines
35. Adolescent Presentations of Inborn Errors of Metabolism
36. Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort
37. 64 - Overview of Genetic Testing and Newborn Screening
38. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1
39. Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation
40. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care
41. Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.
42. MYH7 variants cause complex congenital heart disease
43. Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
44. Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome
45. Heal thyself: The promise of autologous hematopoietic stem cell gene therapy in neurometabolic disorders
46. Resting-State Optical Neuroimaging in a Mouse Model of Metabolic Crisis in Maple Syrup Urine Disease
47. Publisher Correction: Stimulation of entorhinal cortex–dentate gyrus circuitry is antidepressive
48. Anthropomorphizing the Mouse Cardiac Action Potential via a Novel Dynamic Clamp Method
49. Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation
50. Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
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