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

4. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

5. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

6. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

9. De novo variants in DENND5B cause a neurodevelopmental disorder

10. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

11. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

12. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

13. A dyadic approach to the delineation of diagnostic entities in clinical genomics

15. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

16. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

17. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

18. De novo variants in DENND5B cause a neurodevelopmental disorder

19. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

20. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

21. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

22. Microindentation of fresh soft biological tissue: A rapid tissue sectioning and mounting protocol

23. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

25. Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

26. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

27. Characteristics Of Injury In Rugby Union On Artificial And Natural Playing Surfaces

29. Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age

31. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

33. Research standardization tools: pregnancy measures in the PhenX Toolkit

34. Meeting Report. Assessing Human Germ-Cell Mutagenesis in the Post-Genome Era: A Celebration of the Legacy of William Lawson (Bill) Russell

35. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

42. Cohort profile: life with neurofibromatosis 1 – the Danish NF1 cohort

44. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

45. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

46. Pregnancy outcomes in women with neurofibromatosis 1:a Danish population-based cohort study

47. Cohort profile:life with neurofibromatosis 1 - the Danish NF1 cohort

48. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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