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PubPharm (9)
1
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Graziani, L.
|
Cinnirella, G.
|
Ferradini, V.
| +5
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2
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Graziani, L.
|
Cinnirella, G.
|
Ferradini, V.
| +5
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3
Role of POLE and POLD1 in familial cancer
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2020
von
Mur, P.
|
García-Mulero, S.
|
Del Valle, J.
| +26
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4
Tremor is a major feature of 9p13 deletion syndrome
enthalten in:
American journal of medical genetics. Part A
| 2020
von
Ferreira, S.
|
Cinnirella, G.
|
Ramos, L.
| +10
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5
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders
enthalten in:
Clinical genetics
| 2020
von
Cinnirella, G.
|
Taylor, R.
|
Coco, C.
| +6
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6
Tremor is a major feature of 9p13 deletion syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2020
von
Ferreira, S.
|
Cinnirella, G.
|
Ramos, L.
| +10
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7
Gene expression profiles in genome instability-based classes of colorectal cancer
enthalten in:
BMC cancer
| 2018
von
Barresi, V.
|
Cinnirella, G.
|
Valenti, G.
| +4
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8
Gene expression profiles in genome instability-based classes of colorectal cancer
enthalten in:
BMC cancer
| 2018
von
Barresi, V.
|
Cinnirella, G.
|
Valenti, G.
| +4
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9
Gene expression profiles in genome instability-based classes of colorectal cancer
enthalten in:
BMC cancer
| 2018
von
Barresi, V.
|
Cinnirella, G.
|
Valenti, G.
| +4
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American Journal of Medical Genetics Part C: Se...
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American journal of medical genetics. Part A
1
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Broad copy number aberrations
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9p13 deletion syndrome
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ACTG1
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ACTG1 protein, human
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BRWS2
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2020-
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2010-2019
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