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/vufind/Search/Results?lookfor=%22van+Jaarsveld%2C+Richard+H%22&type=Person&sort=year
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PubPharm (35)
1
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
enthalten in:
bioRxiv.org
| 2024
von
Gong, M.
|
Li, J.
|
Liu, Y.
| +63
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2
Pathogenic
SPTBN1
variants cause a novel autosomal dominant neurodevelopmental syndrome
enthalten in:
bioRxiv.org
| 2024
von
Cousin, M.
|
Breau, K.
|
Creighton, B.
| +64
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3
Pathogenic
MAST3
variants in the STK domain are associated with epilepsy
enthalten in:
bioRxiv.org
| 2024
von
Spinelli, E.
|
Christensen, K.
|
Bryant, E.
| +27
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4
De novo variants in the
PSMC3
proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies
enthalten in:
bioRxiv.org
| 2023
von
Ebstein, F.
|
Küry, S.
|
Most, V.
| +68
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5
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development
enthalten in:
Nature communications
| 2023
von
Asmar, A.
|
Abrams, S.
|
Hsin, J.
| +11
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6
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2023
von
Rots, D.
|
Jakub, T.
|
Keung, C.
| +99
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7
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
enthalten in:
Science translational medicine
| 2023
von
Ebstein, F.
|
Küry, S.
|
Most, V.
| +71
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8
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
enthalten in:
Journal of medical genetics
| 2023
von
Otsuji, S.
|
Nishio, Y.
|
Tsujita, M.
| +14
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9
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
enthalten in:
Brain : a journal of neurology
| 2023
von
Pavinato, L.
|
Delle Vedove, A.
|
Carli, D.
| +31
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10
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
van Jaarsveld, R.
|
Reilly, J.
|
Cornips, M.
| +56
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6
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2
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2
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2
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1
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Nephrology, dialysis, transplantation : officia...
1
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1
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27
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22
Research Support, Non-U.S. Gov't
10
Research Support, N.I.H., Extramural
5
570
5
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3
intellectual disability
2
EC 3.4.25.1
2
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2
Proteasome Endopeptidase Complex
2
Published Erratum
2
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2
Ubiquitin
2
cancer
2
neurodevelopment
2
whole exome sequencing
1
12634-43-4
1
33X04XA5AT
1
53IA0V845C
1
9007-49-2
1
ADHD
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Erscheinungszeitraum
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2020-
5
2010-2019
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35
Englisch
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