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/vufind/Search/Results?lookfor=%22Cappuccio%2C+Gerarda%22&type=Person&sort=year
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PubPharm (138)
1
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
enthalten in:
Cellular and molecular life sciences : CMLS
| 2024
von
Xu, Y.
|
Song, R.
|
Perszyk, R.
| +32
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2
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
enthalten in:
Cellular and molecular life sciences
| 2024
von
Xu, Y.
|
Song, R.
|
Perszyk, R.
| +32
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3
L-serine treatment in patients with GRIN-related encephalopathy : A phase 2A, non-randomized study
enthalten in:
Brain : a journal of neurology
| 2024
von
Juliá-Palacios, N.
|
Olivella, M.
|
Sigatullina Bondarenko, M.
| +44
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4
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome
enthalten in:
Stem cell research
| 2024
von
Mendonca, D.
|
Cappuccio, G.
|
Sheppard, J.
| +11
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5
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders
enthalten in:
The Journal of clinical investigation
| 2024
von
Wang, H.
|
Lin, L.
|
Li, Z.
| +16
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6
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
enthalten in:
Journal of clinical immunology
| 2023
von
Saettini, F.
|
Guerra, F.
|
Fazio, G.
| +21
ErratumIn: J Clin Immunol. 2023 Nov 3;:. - PMID 37921915
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7
Correction to : Antibody Deficiency in Patients with Biallelic KARS1 Mutations
enthalten in:
Journal of clinical immunology
| 2023
von
Saettini, F.
|
Guerra, F.
|
Fazio, G.
| +21
ErratumFor: J Clin Immunol. 2023 Nov;43(8):2115-2125. - PMID 37770806
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8
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
enthalten in:
bioRxiv.org
| 2023
von
LaFlamme, C.
|
Rastin, C.
|
Sengupta, S.
| +49
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9
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
LaFlamme, C.
|
Rastin, C.
|
Sengupta, S.
| +51
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10
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
enthalten in:
Journal of clinical immunology
| 2023
von
Saettini, F.
|
Guerra, F.
|
Fazio, G.
| +21
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American journal of medical genetics. Part A
9
American Journal of Medical Genetics Part C: Se...
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7
European journal of medical genetics
7
Human mutation
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European journal of human genetics : EJHG
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Italian journal of pediatrics
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37
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11
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8
intellectual disability
7
EC 3.6.1.-
6
DNA-Binding Proteins
6
Kabuki syndrome
6
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5
Channelopathy
5
Intellectual disability
5
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5
Transcription Factors
4
Autoimmunity
4
Brain anomalies
4
Multicenter Study
4
Neurological features
4
Rett syndrome
3
Cardiac valve regurgitation
3
Copy number variant (CNV)
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