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PubPharm (28)
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
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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
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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
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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
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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
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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
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7
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
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8
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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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
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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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Medienart: E-Ressourcen
Medienart
28
Aufsätze
28
E-Artikel
E-Ressourcen
Zeitschriftentitel
7
European journal of human genetics : EJHG
6
Clinical epigenetics
2
European journal of medical genetics
2
Frontiers in cell and developmental biology
2
Nature reviews. Endocrinology
1
American journal of medical genetics. Part A
1
Genetics in medicine : official journal of the ...
1
Genetics research
1
Journal of Inherited Metabolic Disease
1
Journal of clinical oncology : official journal...
1
Journal of inherited metabolic disease
1
Pediatric Blood & Cancer
1
Pediatric blood & cancer
1
The Journal of pediatrics
Alle anzeigen ...
weniger ...
Thema
20
Journal Article
12
Research Support, Non-U.S. Gov't
6
Imprinting disorders
3
Beckwith–Wiedemann syndrome spectrum
3
Differentially methylated regions
3
Epimutations
3
Gain of methylation
3
Genetic testing
3
Growth disturbances
3
Loss of methylation
3
Multi locus imprinting disturbance
3
Multi-locus imprinting disorder
3
Multi-locus testing
3
Overlapping phenotypes
3
Silver–Russell syndrome spectrum
3
Transient neonatal diabetes mellitus
3
Unexpected molecular diagnosis
3
Uniparental disomy
3
adrenoleukodystrophy
3
dried bloodspots
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Erscheinungszeitraum
12
2020-
12
2010-2019
4
2000-2009
Erscheinungsjahr(e)
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Sprache
26
Englisch
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