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957 results on '"Nordgren, Ann"'

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1. Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder

2. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

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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

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

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

25. Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.

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

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

40. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

42. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

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

49. Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.