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PubPharm (82)
1
Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (
DSP
) truncating variant
enthalten in:
bioRxiv.org
| 2024
von
Hoorntje, E.
|
Burns, C.
|
Marsili, L.
| +46
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2
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
enthalten in:
bioRxiv.org
| 2024
von
Vetro, A.
|
Balestrini, S.
|
Pelorosso, C.
| +41
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3
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
enthalten in:
European journal of human genetics : EJHG
| 2024
von
D'Incal, C.
|
Annear, D.
|
Elinck, E.
| +7
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4
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Sewani, S.
|
Azamian, M.
|
Mendelsohn, B.
| +20
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5
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Rooney, K.
|
van der Laan, L.
|
Trajkova, S.
| +23
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6
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
enthalten in:
American journal of human genetics
| 2023
von
Vetro, A.
|
Pelorosso, C.
|
Balestrini, S.
| +122
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7
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
enthalten in:
Human molecular genetics
| 2023
von
Copier, J.
|
Bootsma, M.
|
Ng, C.
| +15
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8
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
enthalten in:
Circulation. Genomic and precision medicine
| 2023
von
Hoorntje, E.
|
Burns, C.
|
Marsili, L.
| +46
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9
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2022
von
Cuinat, S.
|
Nizon, M.
|
Isidor, B.
| +48
CommentIn: Genet Med. 2023 Sep;25(9):100878. - PMID 37272925
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10
Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia
enthalten in:
Blood advances
| 2022
von
Noordermeer, T.
|
van Asten, I.
|
Schutgens, R.
| +12
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Heart rhythm
7
Genetics in medicine : official journal of the ...
4
American journal of medical genetics. Part A
4
Circulation
4
Human mutation
3
Circulation. Arrhythmia and electrophysiology
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European journal of human genetics : EJHG
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2
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2
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2
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2
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1
Acta neuropathologica communications
1
American journal of human genetics
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52
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41
Research Support, Non-U.S. Gov't
7
Research Support, N.I.H., Extramural
6
Case Reports
6
Plakophilins
5
PKP2 protein, human
4
Letter
3
9007-49-2
3
Comparative Study
3
DNA
3
Genetics
3
Multicenter Study
3
Repressor Proteins
3
Review
3
Transcription Factors
2
570
2
Biology
2
Biomarkers
2
Calcium-Binding Proteins
2
Carrier Proteins
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Erscheinungszeitraum
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2020-
51
2010-2019
13
2000-2009
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