957 results on '"Nordgren, Ann"'
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2. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Catalog
Books, media, physical & digital resources
3. Cancer risk in individuals with polydactyly: a Swedish population-based cohort study
4. Symptoms of autism in Williams syndrome: a transdiagnostic approach
5. Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
6. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
7. Williams Syndrome: Reduced Orienting to Other's Eyes in a Hypersocial Phenotype
8. CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
9. Survival games for humans and machines
10. Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
11. Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
12. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
13. International Undiagnosed Diseases Programs (UDPs): components and outcomes
14. No transfer of arousal from other’s eyes in Williams syndrome
15. Reduced effects of social feedback on learning in Turner syndrome
16. The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
17. Social feedback enhances learning in Williams syndrome
18. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
19. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
20. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
21. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
22. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
23. Implementing precision medicine in a regionally organized healthcare system in Sweden
24. A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
25. Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.
26. Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.
27. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
28. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
29. Birth Characteristics Among Children Diagnosed with Neurofibromatosis Type 1 and Tuberous Sclerosis
30. Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells
31. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
32. Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
33. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
34. Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
35. Increased risk of colorectal cancer in patients diagnosed with breast cancer in women
36. A call for global action for rare diseases in Africa
37. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
38. Williams syndrome: on the role of intellectual abilities in anxiety
39. Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6
40. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
41. Intellectual Disability & Rare Disorders: A Diagnostic Challenge
42. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
43. No transfer of arousal from other’s eyes: Pupillary contagion in Williams syndrome
44. Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
45. Clinical and molecular consequences of disease-associated de novo mutations in SATB2
46. Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome
47. Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
48. p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids
49. Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
50. Heterozygous variants in DCC: Beyond congenital mirror movements
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