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topic_facet:"Transcription Factors"
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PubPharm (8)
1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
enthalten in:
Journal of medical genetics
| 2022
von
Laquerriere, A.
|
Jaber, D.
|
Abiusi, E.
| +88
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2
Genome sequencing in families with congenital limb malformations
enthalten in:
Human genetics
| 2021
von
Elsner, J.
|
Mensah, M.
|
Holtgrewe, M.
| +29
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3
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
enthalten in:
BMC medical genetics
| 2018
von
Chebly, A.
|
Corbani, S.
|
Abou Ghoch, J.
| +3
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4
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients : implications for diagnosis and etiology
enthalten in:
Orphanet journal of rare diseases
| 2014
von
Velasco, G.
|
Walton, E.
|
Sterlin, D.
| +8
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5
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
enthalten in:
Genome research
| 2013
von
Sailani, M.
|
Makrythanasis, P.
|
Valsesia, A.
| +27
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6
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
enthalten in:
American journal of medical genetics. Part A
| 2011
von
Ravel, A.
|
Chouery, E.
|
Stora, S.
| +4
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7
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase
enthalten in:
Journal of cell science
| 2006
von
Luciani, J.
|
Depetris, D.
|
Usson, Y.
| +9
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8
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
enthalten in:
Investigative ophthalmology & visual science
| 2006
von
Bidinost, C.
|
Matsumoto, M.
|
Chung, D.
| +7
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1
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Thema: Transcription Factors
Medienart
8
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6
E-Artikel
6
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2
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Zeitschriftentitel
1
American journal of medical genetics. Part A
1
BMC medical genetics
1
Genome research
1
Human genetics
1
Investigative ophthalmology & visual science
1
Journal of cell science
1
Journal of medical genetics
1
Orphanet journal of rare diseases
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Thema
8
Journal Article
Transcription Factors
6
Research Support, Non-U.S. Gov't
3
Homeodomain Proteins
2
DNA-Binding Proteins
2
HOXD13 protein, human
2
Nuclear Proteins
1
107283-02-3
1
143220-95-5
1
9007-49-2
1
ASXL3 protein, human
1
CS
1
Carrier Proteins
1
Case Reports
1
Chromobox Protein Homolog 5
1
Chromosomal Proteins, Non-Histone
1
Cockayne
1
Comparative Study
1
DNA
1
DNA Helicases
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Erscheinungszeitraum
2
2020-
4
2010-2019
2
2000-2009
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