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PubPharm (936)
1
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan
enthalten in:
BMC medical genetics
| 2020
von
Zhang, Z.
|
Xiao, Y.
|
Shen, R.
| +7
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2
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan
enthalten in:
BMC medical genetics
| 2020
von
Zhang, Z.
|
Xiao, Y.
|
Shen, R.
| +7
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3
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan
enthalten in:
BMC medical genetics
| 2020
von
Zhang, Z.
|
Xiao, Y.
|
Shen, R.
| +7
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4
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis : a case report
enthalten in:
BMC medical genetics
| 2020
von
Chai, S.
|
Jiao, R.
|
Sun, X.
| +3
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5
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report
enthalten in:
BMC medical genetics
| 2020
von
Chai, S.
|
Jiao, R.
|
Sun, X.
| +3
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6
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report
enthalten in:
BMC medical genetics
| 2020
von
Chai, S.
|
Jiao, R.
|
Sun, X.
| +3
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7
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
enthalten in:
BMC medical genetics
| 2020
von
Ni, X.
|
Jin, C.
|
Jiang, Y.
| +4
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8
Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis : a case report
enthalten in:
BMC medical genetics
| 2020
von
Kim, Y.
|
Shin, S.
|
Jung, S.
| +1
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9
Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report
enthalten in:
BMC medical genetics
| 2020
von
Kim, Y.
|
Shin, S.
|
Jung, S.
| +1
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10
Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report
enthalten in:
BMC medical genetics
| 2020
von
Kim, Y.
|
Shin, S.
|
Jung, S.
| +1
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Zeitschrift: BMC medical genetics
Medienart
936
Aufsätze
936
E-Artikel
936
E-Ressourcen
Zeitschriftentitel
BMC medical genetics
Thema
193
Mutation
188
Journal Article
128
Research Support, Non-U.S. Gov't
99
Case Reports
69
Case report
58
gene
47
Novel mutation
40
Gene mutation
24
mutation
23
Hearing loss
23
Mutations
23
Whole exome sequencing
22
Whole-exome sequencing
20
Nonsense mutation
20
Splice Site Mutation
18
Codon, Nonsense
18
DNA
18
Mutation Carrier
18
mutations
16
Missense mutation
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Erscheinungszeitraum
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2020-
686
2010-2019
141
2000-2009
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936
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