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topic_facet:"Silver-Russell syndrome"
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/vufind/Search/Results?lookfor=%22Elbracht%2C+Miriam%22&type=Person&filter%5B%5D=topic_facet%3A%22Silver-Russell+syndrome%22
/vufind/Search/Results?lookfor=%22Elbracht%2C+Miriam%22&type=Person&filter%5B%5D=topic_facet%3A%22Silver-Russell+syndrome%22
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PubPharm (14)
1
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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2
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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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
| 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
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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7
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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8
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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9
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation
enthalten in:
Clinical epigenetics
| 2019
von
Kraft, F.
|
Wesseler, K.
|
Begemann, M.
| +3
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10
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation
enthalten in:
Clinical epigenetics
| 2019
von
Kraft, F.
|
Wesseler, K.
|
Begemann, M.
| +3
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Thema: Silver-Russell syndrome
Medienart
14
Aufsätze
13
E-Artikel
13
E-Ressourcen
1
Gedruckte Aufsätze
Zeitschriftentitel
3
Journal of molecular medicine
2
Clinical epigenetics
1
American journal of medical genetics. Part A
1
European journal of medical genetics
1
Human mutation
1
Journal of medical genetics
1
Journal of molecular medicine (Berlin, Germany)
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
9
Journal Article
8
Beckwith-Wiedemann syndrome
8
Research Support, Non-U.S. Gov't
4
Detection rate
4
Diagnostics
4
MS MLPA
3
Case Reports
3
Deletion
2
H19/IGF2:IG-DMR
2
Imprinting centre 1
2
Nanopore sequencing
2
SRS
2
growth retardation
2
pathogenic variant
1
11p15
1
151441-47-3
1
Adaptor Proteins, Signal Transducing
1
Apoptosis Regulatory Proteins
1
BWS
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Erscheinungszeitraum
6
2020-
8
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
14
Englisch
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