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topic_facet:"Silver-Russell syndrome"
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/vufind/Search/Results?lookfor=%22Eggermann%2C+Thomas%22&type=Person&filter%5B%5D=topic_facet%3A%22Silver-Russell+syndrome%22
/vufind/Search/Results?lookfor=%22Eggermann%2C+Thomas%22&type=Person&filter%5B%5D=topic_facet%3A%22Silver-Russell+syndrome%22
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PubPharm (25)
1
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network
enthalten in:
Genes
| 2021
von
Eggermann, T.
|
Davies, J.
|
Tauber, M.
| +4
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2
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome
enthalten in:
American journal of medical genetics. Part A
| 2020
von
Meyer, R.
|
Elbracht, M.
|
Opladen, T.
| +1
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3
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome : what has to be considered and why it is important
enthalten in:
Journal of molecular medicine (Berlin, Germany)
| 2020
von
Eggermann, T.
|
Brück, J.
|
Knopp, C.
| +7
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4
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
enthalten in:
Journal of molecular medicine
| 2020
von
Eggermann, T.
|
Brück, J.
|
Knopp, C.
| +7
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5
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
enthalten in:
Journal of molecular medicine
| 2020
von
Eggermann, T.
|
Brück, J.
|
Knopp, C.
| +7
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6
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
enthalten in:
Journal of molecular medicine
| 2020
von
Eggermann, T.
|
Brück, J.
|
Knopp, C.
| +7
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7
HMGA2 Variants in Silver-Russell Syndrome : Homozygous and Heterozygous Occurrence
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2020
von
Hübner, C.
|
Meyer, R.
|
Kenawy, A.
| +6
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8
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations
enthalten in:
European journal of medical genetics
| 2019
von
Eggermann, T.
|
Begemann, M.
|
Kurth, I.
| +1
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9
Next generation sequencing and imprinting disorders : Current applications and future perspectives: Lessons from Silver-Russell syndrome
enthalten in:
Molecular and cellular probes
| 2019
von
Neuheuser, L.
|
Meyer, R.
|
Begemann, M.
| +2
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10
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
enthalten in:
Genetics research
| 2019
von
Mackay, D.
|
Bliek, J.
|
Lombardi, M.
| +11
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Thema: Silver-Russell syndrome
Medienart
25
Aufsätze
24
E-Artikel
24
E-Ressourcen
1
Gedruckte Aufsätze
Zeitschriftentitel
3
American journal of medical genetics. Part A
3
BMC medical genetics
3
Journal of molecular medicine
2
Clinical epigenetics
2
European journal of medical genetics
1
Genes
1
Genetics research
1
Hormone research
1
Hormone research in paediatrics
1
Human mutation
1
Journal of medical genetics
1
Journal of molecular medicine (Berlin, Germany)
1
Journal of pediatric genetics
1
Molecular and cellular probes
1
Molecular genetics & genomic medicine
1
The Journal of clinical endocrinology and metab...
1
The Journal of pediatrics
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Thema
Silver-Russell syndrome
16
Journal Article
11
Beckwith-Wiedemann syndrome
11
Research Support, Non-U.S. Gov't
5
Case Reports
5
Uniparental disomy
4
Detection rate
4
Diagnostics
4
MS MLPA
3
Deletion
3
Genomic imprinting
3
Temple syndrome
3
growth retardation
3
upd(16)mat
3
upd(20)mat
3
upd(6)mat
2
67763-97-7
2
H19/IGF2:IG-DMR
2
HMGA2
2
IGF2 protein, human
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Erscheinungszeitraum
7
2020-
17
2010-2019
1
2000-2009
Erscheinungsjahr(e)
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Sprache
25
Englisch
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