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574 results on '"Smith, Kevin"'

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

2. Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures

3. De novo variants in DENND5B cause a neurodevelopmental disorder

4. Dieter Eckstein's bibliography and legacy of connection to wood biology and tree-ring science

5. AI-Driven Ultrasound Detection of Ovarian Cancer that Generalizes: An International Multicentre Validation Study

6. Mapping the proteogenomic landscape enables prediction of drug response in acute myeloid leukemia

7. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

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

13. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

14. Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis

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

16. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

22. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

23. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

29. Loss of mouse Stmn2 function causes motor neuropathy

38. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

39. International circular economy strategies and their impacts on agricultural water use

43. Loss of mouse Stmn2 function causes motor neuropathy

44. First report from the German COVID-19 autopsy registry

46. SARS-CoV-2 viral load dynamics and real-time RT-PCR cycle threshold interpretation in symptomatic non-hospitalised individuals in New Zealand: A multicentre cross-sectional observational study

48. BEHIND THE SCREEN: A RETROSPECTIVE COMPARATIVE ANALYSIS OF CONGESTIVE HEART FAILURE EXACERBATION ADMISSIONS, FOLLOW UP AND MANAGEMENT DURING THE COVID19 PANDEMIC AND PRE PANDEMIC

50. Multireader evaluation of radiologist performance for COVID-19 detection on emergency department chest radiographs

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