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/vufind/Search/Results?lookfor=%22Musacchia%2C+Francesco%22&type=Person&sort=year
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PubPharm (38)
1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
enthalten in:
bioRxiv.org
| 2023
von
Demidov, G.
|
Yaldiz, B.
|
Garcia-Pelaez, J.
| +19
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2
CHAMP1-related disorders : pathomechanisms triggered by different genomic alterations define distinct nosological categories
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Amenta, S.
|
Marangi, G.
|
Orteschi, D.
| +28
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3
Identification of LINE retrotransposons and long non-coding RNAs expressed in the octopus brain
enthalten in:
bioRxiv.org
| 2022
von
Petrosino, G.
|
Ponte, G.
|
Volpe, M.
| +16
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4
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
enthalten in:
Brain : a journal of neurology
| 2022
von
Scala, M.
|
Nishikawa, M.
|
Ito, H.
| +96
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5
Cantù syndrome : Report of a patient with a novel variant in KCNJ8 and revision of literature
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Apuril Velgara, E.
|
Mariani, M.
|
Torella, A.
| +4
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6
VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage
enthalten in:
bioRxiv.org
| 2022
von
Musacchia, F.
|
Karali, M.
|
Torella, A.
| +7
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7
Identification of LINE retrotransposons and long non-coding RNAs expressed in the octopus brain
enthalten in:
BMC biology
| 2022
von
Petrosino, G.
|
Ponte, G.
|
Volpe, M.
| +17
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8
Identification of LINE retrotransposons and long non-coding RNAs expressed in the octopus brain
enthalten in:
BMC biology
| 2022
von
Petrosino, G.
|
Ponte, G.
|
Volpe, M.
| +17
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9
Therapeutic homology-independent targeted integration in retina and liver
enthalten in:
Nature communications
| 2022
von
Tornabene, P.
|
Ferla, R.
|
Llado-Santaeularia, M.
| +20
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10
Cantù syndrome : Report of a patient with a novel variant in KCNJ8 and revision of literature
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2022
von
Apuril Velgara, E.
|
Mariani, M.
|
Torella, A.
| +3
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European journal of human genetics : EJHG
3
American journal of medical genetics. Part A
3
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3
bioRxiv.org
2
American Journal of Medical Genetics Part C: Se...
2
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Brain : a journal of neurology
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1
International journal of molecular sciences
1
Movement Disorders Clinical Practice
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26
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17
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7
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3
DNA Transposable Elements
3
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2
570
2
Acids
2
Biology
2
Cymodocea nodosa
2
Mollusks
2
Nervous system
2
Proteome
2
RNA, Long Noncoding
2
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2
Transcription Factors
2
Transcriptome
2
Transposable elements
2
carbohydrate metabolism
2
ocean acidification
2
protein folding
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Erscheinungszeitraum
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2020-
11
2010-2019
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Englisch
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