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/vufind/Search/Results?lookfor=%22Nillesen%2C+Willy+M%22&type=Person&sort=year
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PubPharm (60)
1
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies
enthalten in:
American journal of medical genetics. Part A
| 2017
von
Shen, W.
|
Heeley, J.
|
Carlston, C.
| +9
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2
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
enthalten in:
American journal of human genetics
| 2017
von
Gabriele, M.
|
Vulto-van Silfhout, A.
|
Germain, P.
| +48
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3
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
enthalten in:
Genome medicine
| 2016
von
Stevens, S.
|
van Essen, A.
|
van Ravenswaaij, C.
| +10
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4
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
enthalten in:
Genome medicine
| 2016
von
Stevens, S.
|
van Essen, A.
|
van Ravenswaaij, C.
| +10
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5
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
enthalten in:
Genome medicine
| 2016
von
Stevens, S.
|
van Essen, A.
|
van Ravenswaaij, C.
| +10
Wird geladen...
6
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
enthalten in:
Nature genetics
| 2016
von
Witteveen, J.
|
Willemsen, M.
|
Dombroski, T.
| +26
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7
Novel genetic causes for cerebral visual impairment
enthalten in:
European journal of human genetics : EJHG
| 2016
von
Bosch, D.
|
Boonstra, F.
|
de Leeuw, N.
| +8
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8
Novel genetic causes for cerebral visual impairment
enthalten in:
European journal of human genetics
| 2016
von
Bosch, D.
|
Boonstra, F.
|
de Leeuw, N.
| +8
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9
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
enthalten in:
Nature genetics
| 2016
von
Witteveen, J.
|
Willemsen, M.
|
Dombroski, T.
| +26
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10
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
enthalten in:
Nature genetics
| 2016
von
Witteveen, J.
|
Willemsen, M.
|
Dombroski, T.
| +26
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Medienart
60
Aufsätze
31
E-Artikel
31
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29
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Zeitschriftentitel
10
European journal of human genetics : EJHG
9
American journal of human genetics
6
Human mutation
5
Nature genetics
4
American journal of medical genetics. Part A
4
Journal of medical genetics
4
Journal of neurology
3
European journal of human genetics
3
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2
American journal of medical genetics / C
2
European journal of medical genetics
2
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1
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1
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1
Genetic testing and molecular biomarkers
1
Indian journal of human genetics
1
Journal of pediatric neurology
1
Molecular vision
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Thema
32
Journal Article
22
Research Support, Non-U.S. Gov't
5
Case Reports
5
EC 3.1.3.48
5
Protein Tyrosine Phosphatase, Non-Receptor Type 11
4
DNA-Binding Proteins
4
EC 2.1.1.43
4
PTPN11 protein, human
4
Transcription Factors
4
intellectual disability
3
Amyotrophic Lateral Sclerosis
3
Autosomal Dominant
3
Corpus callosum development
3
De novo mutations
3
EC 2.1.1.-
3
EC 3.6.5.2
3
EHMT1 protein, human
3
Hereditary Spastic Paraparesis
3
Histone-Lysine N-Methyltransferase
3
Intellectual disability
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Erscheinungszeitraum
43
2010-2019
17
2000-2009
Erscheinungsjahr(e)
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Englisch
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