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PubPharm (35)
1
Unravelling the disease mechanism for TSPYL1 deficiency
enthalten in:
Human molecular genetics
| 2020
von
Buyse, G.
|
Di Michele, M.
|
Wijgaerts, A.
| +8
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2
The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer
enthalten in:
Haematologica
| 2017
von
Wijgaerts, A.
|
Wittevrongel, C.
|
Thys, C.
| +5
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3
Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development
enthalten in:
Clinical epigenetics
| 2016
von
Rochtus, A.
|
Winand, R.
|
Laenen, G.
| +8
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4
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
enthalten in:
Science translational medicine
| 2016
von
Turro, E.
|
Greene, D.
|
Wijgaerts, A.
| +56
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5
Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development
enthalten in:
Clinical epigenetics
| 2016
von
Rochtus, A.
|
Winand, R.
|
Laenen, G.
| +8
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6
Platelet studies in autism spectrum disorder patients and first-degree relatives
enthalten in:
Molecular autism
| 2015
von
Bijl, N.
|
Thys, C.
|
Wittevrongel, C.
| +5
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7
Platelet studies in autism spectrum disorder patients and first-degree relatives
enthalten in:
Molecular autism
| 2015
von
Bijl, N.
|
Thys, C.
|
Wittevrongel, C.
| +5
CommentIn: Mol Autism. 2016;7:20. - PMID 27030804
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8
DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects
enthalten in:
Epigenetics
| 2015
von
Rochtus, A.
|
Izzi, B.
|
Vangeel, E.
| +9
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9
NPC1 defect results in abnormal platelet formation and function : studies in Niemann-Pick disease type C1 patients and zebrafish
enthalten in:
Human molecular genetics
| 2013
von
Louwette, S.
|
Régal, L.
|
Wittevrongel, C.
| +8
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10
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish
enthalten in:
Human molecular genetics
| 2012
von
Louwette, S.
|
Régal, L.
|
Wittevrongel, C.
| +8
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Human molecular genetics
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Blood
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EC 3.6.5.1
7
GTP-Binding Protein alpha Subunits, Gs
6
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Chromogranins
5
GNAS protein, human
5
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9007-49-2
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Cyclic AMP
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G protein signalling
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