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PubPharm (122)
1
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
enthalten in:
bioRxiv.org
| 2024
von
Chen, Z.
|
Tucci, A.
|
Cipriani, V.
| +17
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2
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
enthalten in:
Gastroenterology
| 2024
von
Schönauer, R.
|
Sierks, D.
|
Boerrigter, M.
| +87
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3
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
enthalten in:
Journal of medical genetics
| 2024
von
Smith, C.
|
Laugel-Haushalter, V.
|
Hany, U.
| +93
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4
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Chen, Z.
|
Gustavsson, E.
|
Macpherson, H.
| +22
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5
Cerebral visual impairment : genetic diagnoses and phenotypic associations
enthalten in:
Journal of medical genetics
| 2024
von
Shaw, E.
|
Flitcroft, I.
|
Bowman, R.
| +62
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6
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
enthalten in:
Brain : a journal of neurology
| 2024
von
Currò, R.
|
Dominik, N.
|
Facchini, S.
| +152
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7
Letter to the editor on : Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)
enthalten in:
Acta neuropathologica communications
| 2024
von
Luo, H.
|
Gustavsson, E.
|
Macpherson, H.
| +29
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8
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)
enthalten in:
Acta Neuropathologica Communications
| 2024
von
Luo, H.
|
Gustavsson, E.
|
Macpherson, H.
| +29
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9
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
enthalten in:
Movement Disorders
| 2024
von
Chen, Z.
|
Gustavsson, E.
|
Macpherson, H.
| +21
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10
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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bioRxiv.org
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Brain : a journal of neurology
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5
Genetics in medicine : official journal of the ...
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6
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Genotype-phenotype correlation
4
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4
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4
epilepsy
4
intellectual disability
4
whole-genome sequencing
3
7-dehydrocholesterol reductase
3
AMPARs
3
Antineoplastic Agents
3
Cerebellar hypoplasia
3
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2020-
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