Suchergebnisse - "Brusco, Alfredo"

PubPharm (313)

1

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle anomalies characterize the severe end of titinopathies spectrum

enthalten in: bioRxiv.org | 2024

von Di Feo, M. | Lillback, V. | Jokela, M. | +10

2

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

enthalten in: bioRxiv.org | 2024

von Currò, R. | Dominik, N. | Facchini, S. | +51

3

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

enthalten in: HGG advances | 2024

von van der Laan, L. | Lauffer, P. | Rooney, K. | +31

4

Correction to : Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024

von Grassini, A. | Cermelli, A. | Roveta, F. | +12

ErratumFor: Neurol Sci. 2024 Mar 18;:. - PMID 38494459

5

Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17 : a case report

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024

von Grassini, A. | Cermelli, A. | Roveta, F. | +12

ErratumIn: Neurol Sci. 2024 Mar 28;:. - PMID 38538926

6

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Karimi, K. | Mol, M. | Haghshenas, S. | +21

7

Identification of the DNA methylation signature of Mowat-Wilson syndrome

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

von Caraffi, S. | van der Laan, L. | Rooney, K. | +21

8

Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles

enthalten in: bioRxiv.org | 2024

von Bassani, S. | Chrast, J. | Ambrosini, G. | +49

9

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Bassani, S. | Chrast, J. | Ambrosini, G. | +49

10

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

enthalten in: Brain : a journal of neurology | 2024

von Currò, R. | Dominik, N. | Facchini, S. | +152

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