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2. High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene

9. TSGA14 is mutated in Joubert syndrome ans is required for tubulin glutamylation at the cilium

13. Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.

17. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

18. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

19. Individual common variants exert weak effects on the risk for autism spectrum disorderspi

20. A genome-wide scan for common alleles affecting risk for autism

21. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.

22. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

23. Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

24. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

25. Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

26. High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

27. Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

28. Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata.

29. Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.

30. Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.

31. SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction.

32. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.

33. RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

34. Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.

35. RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.

36. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

37. Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.

38. Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.

39. Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia.

40. Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels.

41. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.

42. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.

43. Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy.

44. Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.

45. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

46. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

47. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

48. Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

49. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

50. COVID-19 drug repurposing: Summary statistics on current clinical trials and promising untested candidates.

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