Suchergebnisse - "Biamino, Elisa"

PubPharm (72)

1

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome

enthalten in: Journal of the American Heart Association | 2024

von Liu, D. | Billington, C. | Raja, N. | +22

2

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Pavinato, L. | Stanic, J. | Barzasi, M. | +28

3

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

enthalten in: Human mutation | 2022

von Levy, M. | Relator, R. | McConkey, H. | +89

4

PIGN encephalopathy : Characterizing the epileptology

enthalten in: Epilepsia | 2022

von Bayat, A. | de Valles-Ibáñez, G. | Pendziwiat, M. | +66

5

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Kerkhof, J. | Squeo, G. | McConkey, H. | +16

6

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

enthalten in: HGG advances | 2022

von Levy, M. | McConkey, H. | Kerkhof, J. | +84

7

PIGN encephalopathy : Characterizing the epileptology

enthalten in: Epilepsia | 2022

von Bayat, A. | Valles‐Ibáñez, G. | Pendziwiat, M. | +66

8

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

enthalten in: Human mutation | 2022

von Levy, M. | Relator, R. | McConkey, H. | +89

9

A novel COLEC10 mutation in a child with 3MC syndrome

enthalten in: European journal of medical genetics | 2021

von Migliorero, M. | Kalantari, S. | Bracciamà, V. | +7

10

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

enthalten in: Cerebellum (London, England) | 2021

von Pettinato, F. | Mostile, G. | Battini, R. | +17

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