Suchergebnisse - "Renieri, Alessandra"

PubPharm (532)

1

MET is a new confirmed gene responsible for familial distal arthrogryposis

enthalten in: EMBO molecular medicine | 2024

von Maffeo, D. | Carrer, A. | Rina, A. | +5

2

A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A

enthalten in: Human molecular genetics | 2024

von Bhattacharya, A. | Parlanti, P. | Cavallo, L. | +5

3

Vitamin D and COVID-19 susceptibility and severity in the COVID-19 Host Genetics Initiative: A Mendelian randomization study

enthalten in: bioRxiv.org | 2024

von Butler-Laporte, G. | Nakanishi, T. | Mooser, V. | +13

4

Common and rare variant analyses combined with single-cell multiomics reveal cell-type-specific molecular mechanisms of COVID-19 severity

enthalten in: bioRxiv.org | 2024

von Zhang, S. | Cooper-Knock, J. | Weimer, A. | +18

5

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

enthalten in: bioRxiv.org | 2024

von Butler-Laporte, G. | Povysil, G. | Kosmicki, J. | +152

6

Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response

enthalten in: Communications medicine | 2024

von Esposito, M. | Minnai, F. | Copetti, M. | +22

7

Orbital/ocular inflammatory involvement in VEXAS syndrome : Data from the international AIDA network VEXAS registry

enthalten in: Seminars in arthritis and rheumatism | 2024

von Vitale, A. | Caggiano, V. | Martin-Nares, E. | +58

8

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development

enthalten in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2024

von Mazel, B. | Delanne, J. | Garde, A. | +20

9

MET is a new confirmed gene responsible for familial distal arthrogryposis

enthalten in: EMBO Molecular Medicine | 2024

von Maffeo, D. | Carrer, A. | Rina, A. | +5

10

A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

enthalten in: Scientific reports | 2024

von Minnai, F. | Biscarini, F. | Esposito, M. | +120

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