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PubPharm (42)
1
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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2
Correction : Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Wijngaard, R.
|
Demidov, G.
|
O'Gorman, L.
| +27
ErratumFor: Eur J Hum Genet. 2024 Feb;32(2):200-208. - PMID 37853102
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3
Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Wijngaard, R.
|
Demidov, G.
|
O'Gorman, L.
| +27
ErratumIn: Eur J Hum Genet. 2023 Nov 16;:. - PMID 37973950
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4
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
enthalten in:
Frontiers in molecular neuroscience
| 2024
von
Efthymiou, S.
|
Han, W.
|
Ilyas, M.
| +25
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5
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
enthalten in:
American journal of human genetics
| 2024
von
Salpietro, V.
|
Maroofian, R.
|
Zaki, M.
| +164
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6
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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7
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in
AFF3
as a significant cause of intellectual disability
enthalten in:
bioRxiv.org
| 2023
von
Jadhav, B.
|
Garg, P.
|
van Vugt, J.
| +18
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8
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Jadhav, B.
|
Garg, P.
|
van Vugt, J.
| +20
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9
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
enthalten in:
Genome medicine
| 2023
von
Lin, S.
|
Vona, B.
|
Lau, T.
| +34
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10
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
enthalten in:
Genome medicine
| 2023
von
Lin, S.
|
Vona, B.
|
Lau, T.
| +34
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Genetics in medicine : official journal of the ...
2
American journal of human genetics
2
Annals of Clinical and Translational Neurology
2
Annals of clinical and translational neurology
2
Annals of neurology
2
European journal of human genetics : EJHG
2
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Movement disorders : official journal of the Mo...
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1
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1
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1
Frontiers in molecular neuroscience
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23
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10
Research Support, Non-U.S. Gov't
3
570
3
Biology
3
Proteins
3
Research Support, N.I.H., Extramural
3
Review
2
2-oxo acid dehydrogenase
2
Disease model
2
Gene burden
2
Genetic compensation
2
Genetics
2
Mitochondria
2
Neurodevelopmental disorders
2
OGDHL
2
Proteomics
2
Published Erratum
2
Spastic ataxia
2
Variant testing
2
Zebrafish
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Erscheinungszeitraum
6
2024
22
2023
12
2022
2
2021
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Englisch
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