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1 research outputs found
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
Author
A McKenna
AJ Walne
+43Â more
Alana Vicente
BJ Ballew
C Kannengiesser
C Speckmann
Carrie Diamond
Danielle M Townsley
DM Townsley
Eliane Chouery
F Gutierrez-Rodrigues
F Gutierrez-Rodrigues
F Touzot
Fayez Abillama
Fernanda Gutierrez-Rodrigues
H Ding
H Hamamy
H Li
Hussein Farhat
JB Vannier
JCW Marsh
JD Cogan
JK Alder
JP Desvignes
K Nykamp
M Armanios
Marie Louise Coussa
Martin Kirschner
MR Niewisch
Nadine Jalkh
Neal S. Young
Noha Bejjani
Nohad Masri
P Ziegler
PP Khincha
PP Khincha
R Borie
Rodrigo T. Calado
RT Calado
S Richards
Sachiko Kajigaya
SR Cardoso
T Le Guen
T Vulliamy
Wassim Serhal
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
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