SOLVING THE UNSOLVED: AN INTERDISCIPLINARY EVALUATION OF PERSONAL, SOCIAL AND HEALTH SYSTEM EFFECTS OF THE USE OF GENOMIC STRATEGIES FOR RARE UNDIAGNOSED DISORDERS

Project Title

Partner Organisations

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

Internal ID

1211411

Principal Investigator

REPETTO LISBOA, MARIA GABRIELA

Start Date

2021

Views

19

Last Month
3

Acquisition Date
Nov 21, 2024

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Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

( 2022)
Yanireth Jimenez
;
Cesar Paulsen
;
Eduardo Turner
;
Sebastian Iturra
;
Oscar Cuevas
;
Guillermo Lay-son
;
REPETTO LISBOA, MARIA GABRIELA
;
Marcelo Rojas
;
CALDERON GIADROSIC, JUAN FRANCISCO

Scopus© Citations 1 37
PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants

( 2023)
H. Grimes
;
M. Ansari
;
T. Ashraf
;
Anna Mª. Cueto‐González
;
A. Calder
;
M. Day
;
P. Fernandez Alvarez
;
A. Foster
;
N. Lahiri
;
G. M. Repetto
;
I. Scurr
;
V. Varghese
;
Karen J. Low

Scopus© Citations 5

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