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PubPharm (6)
1
One test for all : whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Meyer, R.
|
Begemann, M.
|
Hübner, C.
| +14
Wird geladen...
2
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Meyer, R.
|
Begemann, M.
|
Hübner, C.
| +14
Wird geladen...
3
Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
enthalten in:
Orphanet journal of rare diseases
| 2020
von
Eggermann, T.
|
Elbracht, M.
|
Kurth, I.
| +110
Wird geladen...
4
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
enthalten in:
Orphanet journal of rare diseases
| 2020
von
Eggermann, T.
|
Elbracht, M.
|
Kurth, I.
| +10
Wird geladen...
5
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
enthalten in:
Orphanet journal of rare diseases
| 2020
von
Eggermann, T.
|
Elbracht, M.
|
Kurth, I.
| +10
Wird geladen...
6
Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
enthalten in:
Orphanet journal of rare diseases
| 2020
von
Eggermann, T.
|
Elbracht, M.
|
Kurth, I.
| +10
Wird geladen...
1
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Zeitschrift: Orphanet journal of rare diseases
Medienart
6
Aufsätze
6
E-Artikel
6
E-Ressourcen
Zeitschriftentitel
Orphanet journal of rare diseases
Thema
3
Genetic testing
3
Imprinting disorders
3
Rare endocrine conditions
3
Short stature - glucose and insulin homeostasis...
2
Diagnostic detection rate
2
Journal Article
2
Next generation sequencing
2
Research Support, Non-U.S. Gov't
2
Silver–Russell syndrome
2
Targeted multigene panel NGS
2
Whole exome sequencing
1
Review
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Erscheinungszeitraum
2
2021
4
2020
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6
Englisch
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