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/vufind/Search/Results?lookfor=%22Shinawi%2C+Marwan%22&type=Person&sort=year
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PubPharm (258)
1
MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks
enthalten in:
The Journal of allergy and clinical immunology
| 2024
von
Mathias, B.
|
O'Leary, D.
|
Saucier, N.
| +10
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2
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
enthalten in:
American journal of human genetics
| 2024
von
Shepherdson, J.
|
Hutchison, K.
|
Don, D.
| +54
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3
CAMTA1-related disorder : Phenotypic and molecular characterization of 26 new individuals and literature review
enthalten in:
Clinical genetics
| 2024
von
Al-Kateb, H.
|
Au, P.
|
Berland, S.
| +18
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4
Case report : ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease
enthalten in:
Ophthalmic genetics
| 2023
von
Kimera, L.
|
Nadimpalli, S.
|
Kurup, S.
| +9
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5
SLC6A1 variant pathogenicity, molecular function and phenotype : a genetic and clinical analysis
enthalten in:
Brain : a journal of neurology
| 2023
von
Stefanski, A.
|
Pérez-Palma, E.
|
Brünger, T.
| +43
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6
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
enthalten in:
American journal of human genetics
| 2023
von
Nil, Z.
|
Deshwar, A.
|
Huang, Y.
| +33
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7
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
enthalten in:
American journal of human genetics
| 2023
von
Mah-Som, A.
|
Daw, J.
|
Huynh, D.
| +32
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8
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency : Hypomorphic variants and two distinct disease entities
enthalten in:
Molecular genetics and metabolism
| 2023
von
Wongkittichote, P.
|
Duque Lasio, M.
|
Magistrati, M.
| +10
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9
The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease
enthalten in:
ResearchSquare.com
| 2023
von
Taft, R.
|
Thorpe, E.
|
Williams, T.
| +61
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10
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
enthalten in:
Brain : a journal of neurology
| 2023
von
Calame, D.
|
Moreno Vadillo, C.
|
Berger, S.
| +26
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American journal of human genetics
20
American journal of medical genetics. Part A
16
Genetics in medicine : official journal of the ...
12
Human mutation
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Nature genetics
8
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Journal of medical genetics
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American journal of medical genetics / C
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European journal of human genetics : EJHG
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European journal of pediatrics
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11
intellectual disability
10
developmental delay
9
Nerve Tissue Proteins
9
Transcription Factors
8
Review
6
Chromatin
6
DNA-Binding Proteins
5
Biology
5
C-terminal binding protein
5
Developmental delay
5
Gene mutations
5
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5
autism
4
570
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Acyclovir
4
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2010-2019
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