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520 results on '"A. Butte"'

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

4. 157 The challenges of recognition and diagnosis of APDS2 in a family with novel PIK3R1 variant

5. 20 Multi-Year Registry Study of Elapegademase-lvlr Treatment in Patients with Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy (ERT)

6. Ethical and regulatory challenges of large language models in medicine

8. De novo variants in DENND5B cause a neurodevelopmental disorder

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

11. Identification d’une signature en Single Cell transcriptomique associée à l’activité de la maladie dans la polyarthrite rhumatoïde

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

14. Development of ceramic coatings on titanium alloy substrate by laser cladding with pre-placed natural derived-slurry: Influence of hydroxyapatite ratio and beam power

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

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

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

22. Serum tryptophan metabolites are associated with erosive hand osteoarthritis and pain: results from the DIGICOD cohort

23. The roles of sleep and eating patterns in adiposity gain among preschool-aged children

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

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

32. Rationale and design of a pilot randomized controlled trial to increase moderate-to-vigorous physical activity in preadolescent Latina girls and their mothers

33. Nucleic acid biomarkers of immune response and cell and tissue damage in children with COVID-19 and MIS-C

34. Development of ceramic coatings on titanium alloy substrate by laser cladding with pre-placed natural derived-slurry: Influence of hydroxyapatite ratio and beam power

35. Contextualising adverse events of special interest to characterise the baseline incidence rates in 24 million patients with COVID-19 across 26 databases: a multinational retrospective cohort study

38. Tryptophan Metabolites Are Associated With Erosion And Pain In Hand Osteoarthritis: Results From The Digicod Cohort

39. Severe Combined Immunodeficiency (SCID) Patient and Families Report Significant Financial Burden

41. Electrocardiogram Detection of Pulmonary Hypertension Using Deep Learning

42. Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

43. Immunomodulatory microneedle patch for periodontal tissue regeneration

45. Electrocardiogram Detection of Pulmonary Hypertension Using Deep Learning

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

47. Association entre les métabolites du tryptophane et la présence d’érosions et de symptômes dans l’arthrose digitale : résultats issus de la cohorte DIGICOD

49. Variability in energy expenditure is much greater in males than females

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

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