Suchergebnisse - "Carbo, Ellen C"

PubPharm (8)

1

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

enthalten in: The Journal of molecular diagnostics : JMD | 2019

von Kant, B. | Carbo, E. | Kokmeijer, I. | +7

2

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

enthalten in: Journal of medical genetics | 2019

von de Lange, I. | Koudijs, M. | van 't Slot, R. | +10

3

The respiratory virome and exacerbations in patients with chronic obstructive pulmonary disease

enthalten in: PloS one | 2019

von van Rijn, A. | van Boheemen, S. | Sidorov, I. | +11

4

METAGENOMIC SEQUENCING FOR COMBINED DETECTION OF RNA AND DNA VIRUSES IN RESPIRATORY SAMPLES FROM PAEDIATRIC PATIENTS

enthalten in: bioRxiv.org | 2018

von van Boheemen, S. | van Rijn-Klink, A. | Pappas, N. | +7

5

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

enthalten in: Journal of medical genetics | 2018

von Van Gijn, M. | Ceccherini, I. | Shinar, Y. | +11

6

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

enthalten in: Epilepsia | 2018

von de Lange, I. | Koudijs, M. | van 't Slot, R. | +13

7

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2016

von Monroe, G. | Frederix, G. | Savelberg, S. | +15

8

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

enthalten in: Genetics in medicine | 2016

von Monroe, G. | Frederix, G. | Savelberg, S. | +15

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