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PubPharm (65)
1
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
enthalten in:
Nature communications
| 2024
von
Accogli, A.
|
Shakya, S.
|
Yang, T.
| +55
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2
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Bosch, E.
|
Popp, B.
|
Güse, E.
| +69
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3
Neuroblastoma Patients' Outcome and Chromosomal Instability
enthalten in:
International journal of molecular sciences
| 2023
von
Ognibene, M.
|
De Marco, P.
|
Amoroso, L.
| +4
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4
Elucidating the clinical and molecular spectrum of
SMARCC2
-associated NDD in a cohort of 65 affected individuals
enthalten in:
bioRxiv.org
| 2023
von
Bosch, E.
|
Popp, B.
|
Güse, E.
| +69
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5
Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis
enthalten in:
Cancers
| 2023
von
Ognibene, M.
|
De Marco, P.
|
Amoroso, L.
| +4
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6
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients : The Role of Rare Variants of RNF213
enthalten in:
Cancers
| 2023
von
Ognibene, M.
|
Scala, M.
|
Iacomino, M.
| +18
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7
A Simple, Test-Based Method to Control the Overestimation Bias in the Analysis of Potential Prognostic Tumour Markers
enthalten in:
Cancers
| 2023
von
Ognibene, M.
|
Pezzolo, A.
|
Cavanna, R.
| +3
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8
Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report
enthalten in:
Frontiers in pediatrics
| 2023
von
Montalto, S.
|
Di Filippo, M.
|
Capra, V.
| +6
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9
Case report : Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?
enthalten in:
Frontiers in pediatrics
| 2023
von
Chelleri, C.
|
Scala, M.
|
De Marco, P.
| +9
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10
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption : Possible novel clinical issues
enthalten in:
Birth defects research
| 2022
von
Romano, F.
|
Madia, F.
|
De Marco, P.
| +13
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European journal of protistology
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Thema
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23
Research Support, Non-U.S. Gov't
13
neuroblastoma
8
Guanine Nucleotide Exchange Factors
7
Mcf2 protein, mouse
5
Biomarkers, Tumor
5
Case Reports
5
EC 3.6.5.2
4
Dbl
4
Proto-Oncogene Proteins
3
Cytoskeletal Proteins
3
Diffuse large B cell lymphoma
3
EC 2.7.11.1
3
Knock-in mice
3
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3
N-Myc Proto-Oncogene Protein
3
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3
Small lymphocytic lymphoma
3
cdc42 GTP-Binding Protein
3
ezrin
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2020-
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2010-2019
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2000-2009
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