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/vufind/Search/Results?lookfor=%22Whole-exome+sequencing%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22Whole-exome+sequencing%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
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PubPharm (8.652)
1
Rare CRHR2 and GRM8 variants identified as candidate factors associated with eating disorders in Japanese patients by whole exome sequencing
enthalten in:
Heliyon
| 2024
von
Oka, A.
|
Hadano, S.
|
Ueda, M.
| +3
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2
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Chen, Y.
|
Yang, R.
|
Chen, X.
| +7
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3
Juvenile sialidosis : a rare case and review of the literature
enthalten in:
Annals of medicine and surgery (2012)
| 2024
von
Pokharel, P.
|
Dawadi, A.
|
Baral, B.
| +3
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4
Whole-exome sequencing has revealed novel genetic characteristics in intracranial germ cell tumours in the Chinese
enthalten in:
Histopathology
| 2024
von
Huang, X.
|
Huang, J.
|
Zhou, X.
| +5
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5
TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden
enthalten in:
Cancer investigation
| 2024
von
Li, L.
|
Yue, P.
|
Zhu, J.
| +4
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6
Syndromic ciliopathy : a taiwanese single-center study
enthalten in:
BMC medical genomics
| 2024
von
Pan, Y.
|
Ou, T.
|
Chou, Y.
| +8
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7
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function
enthalten in:
Human molecular genetics
| 2024
von
Alpaslan, M.
|
Fastré, E.
|
Mestre, S.
| +18
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8
Syndromic ciliopathy: a taiwanese single-center study
enthalten in:
BMC medical genomics
| 2024
von
Pan, Y.
|
Ou, T.
|
Chou, Y.
| +8
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9
Tumor Mutation Burden as a Cornerstone in Precision Oncology Landscapes : Effect of Panel Size and Uncertainty in Cutoffs
enthalten in:
Omics : a journal of integrative biology
| 2024
von
Budak, B.
|
Arga, K.
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10
A multi-omics analysis-based model to predict the prognosis of low-grade gliomas
enthalten in:
Scientific reports
| 2024
von
Du, Z.
|
Jiang, Y.
|
Yang, Y.
| +4
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Medienart
8.651
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8.143
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8.142
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509
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Frontiers in genetics
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73
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73
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70
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65
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2.042
Whole exome sequencing
1.829
whole exome sequencing
1.730
Whole-exome sequencing
1.725
whole-exome sequencing
1.627
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1.455
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632
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390
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335
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231
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206
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197
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166
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165
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158
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152
whole‐exome sequencing
138
genetics
137
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133
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2020-
3.455
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