Suchergebnisse - "Kohler, Jennefer N"

PubPharm (46)

1

The Parent PrU : A measure to assess personal utility of pediatric genomic results

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

von Turbitt, E. | Kohler, J. | Brothers, K. | +5

2

A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels

enthalten in: Nature metabolism | 2023

von Dutta, D. | Kanca, O. | Byeon, S. | +13

3

Loss of Mitochondrial Enoyl CoA Reductase causes elevated ceramide levels and impairs iron metabolism

enthalten in: bioRxiv.org | 2023

von Dutta, D. | Kanca, O. | Byeon, S. | +12

4

The PrU : Development and validation of a measure to assess personal utility of genomic results

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Turbitt, E. | Kohler, J. | Angelo, F. | +6

5

Perceived utility and disutility of genomic sequencing for pediatric patients : Perspectives from parents with diverse sociodemographic characteristics

enthalten in: American journal of medical genetics. Part A | 2022

von Halley, M. | Young, J. | Fernandez, L. | +5

6

Genetic counselor roles in the undiagnosed diseases network research study : Clinical care, collaboration, and curation

enthalten in: Journal of genetic counseling | 2022

von Kohler, J. | Kelley, E. | Boyd, B. | +104

7

Perceived utility and disutility of genomic sequencing for pediatric patients : Perspectives from parents with diverse sociodemographic characteristics

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Halley, M. | Young, J. | Fernandez, L. | +4

8

Genetic counselor roles in the undiagnosed diseases network research study : Clinical care, collaboration, and curation

enthalten in: Journal of Genetic Counseling | 2022

von Kohler, J. | Kelley, E. | Boyd, B. | +3

9

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

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Schoch, K. | Esteves, C. | Bican, A. | +129

10

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

enthalten in: bioRxiv.org | 2021

von Perenthaler, E. | Nikoncuk, A. | Yousefi, S. | +44

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