Suchergebnisse - "Aznar-Laín, Gemma"

PubPharm (16)

1

A new blood DNA methylation signature for Koolen-de Vries syndrome : Classification of missense KANSL1 variants and comparison to fibroblast cells

enthalten in: European journal of human genetics : EJHG | 2024

von Awamleh, Z. | Choufani, S. | Wu, W. | +14

ErratumIn: Eur J Hum Genet. 2024 Feb 15;:. - PMID 38355964

2

Correction : A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

enthalten in: European journal of human genetics : EJHG | 2024

von Awamleh, Z. | Choufani, S. | Wu, W. | +14

ErratumFor: Eur J Hum Genet. 2024 Mar;32(3):324-332. - PMID 38282074

3

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

enthalten in: The Journal of clinical investigation | 2024

von Li, D. | Wang, Q. | Bayat, A. | +98

4

CDKL5 Deficiency Disorder Without Epilepsy

enthalten in: Pediatric neurology | 2023

von Aznar-Laín, G. | Fernández-Mayoralas, D. | Caicoya, A. | +2

5

Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies : a multicentre observational study

enthalten in: The Lancet. Neurology | 2020

von Armangue, T. | Olivé-Cirera, G. | Martínez-Hernandez, E. | +71

CommentIn: Lancet Neurol. 2020 Mar;19(3):199-200. - PMID 32057302

6

Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis : a prospective observational study and retrospective analysis

enthalten in: The Lancet. Neurology | 2018

von Armangue, T. | Spatola, M. | Vlagea, A. | +87

CommentIn: Lancet Neurol. 2018 Sep;17(9):733-735. - PMID 30049613

7

Post-ictal atrial fibrillation detected during video-EEG monitoring : Case report, proposed physiopathologic mechanism and therapeutic considerations

enthalten in: Epilepsy & behavior case reports | 2017

von Sanchez-Larsen, A. | Aznar-Lain, G. | Benito, B. | +4

8

Targeting tryptophan and tyrosine metabolism by liquid chromatography tandem mass spectrometry

enthalten in: Journal of chromatography. A | 2016

von Marcos, J. | Renau, N. | Valverde, O. | +7

9

Comprehensive molecular testing in patients with high functioning autism spectrum disorder

enthalten in: Mutation research | 2016

von Alvarez-Mora, M. | Calvo Escalona, R. | Puig Navarro, O. | +9

10

Cerebellar cognitive affective syndrome

enthalten in: Archivos argentinos de pediatria | 2015

von Garriga-Grimau, L. | Aznar Lain, G. | Nascimiento, M. | +1