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/vufind/Search/Results?lookfor=%22Bertoli%2C+Marta%22&type=Person&sort=year
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PubPharm (63)
1
'Something that helped the whole picture' : Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service
enthalten in:
Prenatal diagnosis
| 2024
von
McInnes-Dean, H.
|
Mellis, R.
|
Daniel, M.
| +21
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2
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Tolonen, J.
|
Parolin Schnekenberg, R.
|
McGowan, S.
| +46
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3
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
enthalten in:
Movement Disorders
| 2024
von
Tolonen, J.
|
Parolin Schnekenberg, R.
|
McGowan, S.
| +45
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4
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
enthalten in:
bioRxiv.org
| 2023
von
Cipriani, V.
|
Vestito, L.
|
Magavern, E.
| +58
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5
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Cipriani, V.
|
Vestito, L.
|
Magavern, E.
| +58
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6
Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders
enthalten in:
bioRxiv.org
| 2023
von
Copeland, H.
|
Low, K.
|
Wynn, S.
| +89
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7
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2022
von
Kayumi, S.
|
Pérez-Jurado, L.
|
Palomares, M.
| +72
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8
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
enthalten in:
Human molecular genetics
| 2022
von
Gregor, A.
|
Meerbrei, T.
|
Gerstner, T.
| +40
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9
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
enthalten in:
Human molecular genetics
| Feb 3 2022
von
Gregor, A.
|
Meerbrei, T.
|
Gerstner, T.
| +40
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10
International retrospective natural history study of LMNA-related congenital muscular dystrophy
enthalten in:
Brain communications
| 2021
von
Ben Yaou, R.
|
Yun, P.
|
Dabaj, I.
| +41
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Neuromuscular disorders
4
Orphanet journal of rare diseases
4
Parasitology research
3
American journal of medical genetics. Part A
3
Clinical dysmorphology
3
Genetics in medicine : official journal of the ...
3
Neuromuscular disorders : NMD
2
American journal of human genetics
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Blood
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Journal of neurology, neurosurgery, and psychiatry
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bioRxiv.org
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American Journal of Medical Genetics Part C: Se...
1
American journal of medical genetics. Part C, S...
1
Brain
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Research Support, Non-U.S. Gov't
7
Case Reports
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Research Support, N.I.H., Extramural
4
146888-27-9
4
Dystroglycanopathies
4
Dystroglycans
4
GMPPB
4
Letter
4
intellectual disability
3
EC 2.7.7.-
3
EC 2.7.7.13
3
LMNA
3
Nucleotidyltransferases
3
Transcription Factors
3
mannose 1-phosphate guanylyltransferase
3
next-generation sequencing
2
570
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B3GALTN2
2
Biology
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