Suchergebnisse - "Williams, Marc"

PubPharm (641)

1

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

enthalten in: bioRxiv.org | 2024

von Zeng, C. | Bastarache, L. | Tao, R. | +30

2

Penetrance of breast cancer genes from the eMERGE III Network

enthalten in: bioRxiv.org | 2024

von Fan, X. | Wynn, J. | Shang, N. | +26

3

Genetically guided precision medicine clinical decision support tools : a systematic review

enthalten in: Journal of the American Medical Informatics Association : JAMIA | 2024

von Johnson, D. | Del Fiol, G. | Kawamoto, K. | +5

4

Allele-specific transcriptional effects of subclonal copy number alterations enable genotype-phenotype mapping in cancer cells

enthalten in: Nature communications | 2024

von Shi, H. | Williams, M. | Satas, G. | +3

UpdateOf: bioRxiv. 2023 Jan 17;:. - PMID 36711951

5

Genomics in nephrology : identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach

enthalten in: Journal of the American Medical Informatics Association : JAMIA | 2024

von Romagnoli, K. | Salvati, Z. | Johnson, D. | +3

6

Associations between disordered eating, internalizing symptoms, and behavioral and neural correlates of response inhibition in preadolescence

enthalten in: Developmental psychobiology | 2024

von Thomas, K. | Jones, C. | Williams, M. | +1

7

Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Friedman, J. | Bombard, Y. | Carleton, B. | +10

8

An exploration of the relationship between loneliness, the severity of eating disorder-related symptoms and the experience of the 'anorexic voice'

enthalten in: Psychology and psychotherapy | 2024

von Marffy, M. | Fox, J. | Williams, M.

9

Computational validation of clonal and subclonal copy number alterations from bulk tumor sequencing using CNAqc

enthalten in: Genome biology | 2024

von Antonello, A. | Bergamin, R. | Calonaci, N. | +9

10

Case report : Simultaneous measurement of intracranial pressure and lumbar intrathecal pressure during epidural patch therapy for treating spontaneous intracranial hypotension syndrome. Spontaneous intracranial hypotension or spontaneous intraspinal hypovolume?

enthalten in: Frontiers in neurology | 2024

von Engrand, N. | Salardaine, Q. | Desilles, J. | +4

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