Suchergebnisse - "Bliek, Jet"

PubPharm (44)

1

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

enthalten in: European journal of human genetics : EJHG | 2023

von Maas, S. | Krzyzewska, I. | Lombardi, M. | +3

2

Sex-specific newborn screening for X-linked adrenoleukodystrophy

enthalten in: Journal of inherited metabolic disease | 2023

von Albersen, M. | van der Beek, S. | Dijkstra, I. | +18

3

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

enthalten in: Journal of Inherited Metabolic Disease | 2023

von Albersen, M. | Beek, S. | Dijkstra, I. | +18

4

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

5

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

6

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

7

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

8

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort : A Comprehensive Clinical and Genomic Characterization

enthalten in: Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2022

von Hol, J. | Kuiper, R. | van Dijk, F. | +13

CommentIn: J Clin Oncol. 2022 Jun 10;40(17):1853-1860. - PMID 35500208

9

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID) : common mechanisms and consequences

enthalten in: Clinical epigenetics | 2022

von Eggermann, T. | Yapici, E. | Bliek, J. | +16

10

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

enthalten in: Clinical epigenetics | 2022

von Eggermann, T. | Yapici, E. | Bliek, J. | +16

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