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topic_facet:"Exome sequencing"
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PubPharm (6)
1
Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Pucel, J.
|
Briere, L.
|
Reuter, C.
| +103
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2
Improving access to exome sequencing in a medically underserved population through the Texome Project
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Vuocolo, B.
|
German, R.
|
Lalani, S.
| +34
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3
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
enthalten in:
Genome medicine
| 2019
von
Dharmadhikari, A.
|
Ghosh, R.
|
Yuan, B.
| +32
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4
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
enthalten in:
Genome medicine
| 2019
von
Dharmadhikari, A.
|
Ghosh, R.
|
Yuan, B.
| +32
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5
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
enthalten in:
Genome medicine
| 2019
von
Dharmadhikari, A.
|
Ghosh, R.
|
Yuan, B.
| +32
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6
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2019
von
Shashi, V.
|
Schoch, K.
|
Spillmann, R.
| +110
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1
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Thema: Exome sequencing
Medienart
6
Aufsätze
6
E-Artikel
6
E-Ressourcen
Zeitschriftentitel
3
Genetics in medicine : official journal of the ...
3
Genome medicine
Thema
Exome sequencing
4
Journal Article
3
Dual molecular diagnoses
3
Exonic CNV in AR disorders
3
Microarray
3
ROH
3
Structural variation
3
Uniparental disomy
2
Genome sequencing
2
Research Support, N.I.H., Extramural
1
Access to genomic medicine
1
Diagnostic odyssey
1
Genetic testing
1
Phenotyping
1
Predictors of a diagnosis
1
Rare disease
1
Rare diseases
1
Under-represented populations
1
Undiagnosed disease
1
Undiagnosed diseases
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Erscheinungszeitraum
2
2020-
4
2010-2019
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6
Englisch
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