E. Calpena
发表
A. Toutain,
A. Wilkie,
J. Galbany,
2019,
Human mutation.
J. Satrústegui,
E. Calpena,
F. Palau,
2017,
Scientific Reports.
R. Lifton,
M. Passos-Bueno,
S. Twigg,
2021,
Journal of Medical Genetics.
E. van Binsbergen,
S. Twigg,
A. Wilkie,
2019,
American journal of human genetics.
M. V. Dooren,
S. Twigg,
A. Wilkie,
2019
.
S. Twigg,
A. Wilkie,
H. Stewart,
2021,
Human mutation.
C. Espinós,
E. Calpena,
D. Martínez-Rubio,
2012,
Advances in experimental medicine and biology.
S. Pascual-Pascual,
C. Espinós,
E. Calpena,
2015,
Journal of child neurology.
J. Dopazo,
R. Sivera,
C. Espinós,
2015,
European journal of neurology.
J. Beckmann,
J. Senderek,
R. Chrast,
2013,
Glia.
R. Quinton,
W. Crowley,
A. Wilkie,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
C. Pérez-Cerdá,
M. Ugarte,
M. Palacín,
2013,
Molecular genetics and metabolism.
I. Scheffer,
H. Mefford,
E. Zackai,
2018,
American journal of human genetics.
S. Twigg,
P. J. van der Spek,
J. Schwabe,
2019,
Human molecular genetics.
A. Reymond,
A. Pagnamenta,
S. Knight,
2020,
bioRxiv.
I. Krantz,
V. Lefebvre,
C. Depienne,
2020,
American journal of human genetics.
W. Lattanzi,
S. Twigg,
A. Wilkie,
2020,
Genetics in Medicine.
Rachel L. Taylor,
R. Pfundt,
M. Reijnders,
2018,
American journal of human genetics.
R. Artuch,
J. Colomer,
C. Espinós,
2012,
JIMD Reports.
T. Strom,
J. Clayton-Smith,
A. Ekici,
2018,
American journal of human genetics.
Beatriz Llamusí,
R. Artero,
M. I. Galindo,
2018,
Disease Models & Mechanisms.
M. I. Galindo,
C. Espinós,
E. Calpena,
2015,
PloS one.
M. B. Pereira,
A. Need,
M. Kayikci,
2021,
Genetics in Medicine.
R. Pfundt,
A. Wilkie,
K. Gripp,
2021,
Human mutation.
C. Espinós,
N. Manning,
E. Calpena,
2015,
European Journal of Pediatrics.
R. Pfundt,
D. Baralle,
I. Thiffault,
2022,
American journal of human genetics.
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
S. Twigg,
A. Wilkie,
A. Weber,
2023,
Genes.
S. Twigg,
A. Wilkie,
S. McGowan,
2018,
Human mutation.
J. Leatherwood,
M. R. Sharifmoghadam,
M. Curto,
2014,
Genetics.
E. Rivas,
R. Sivera,
C. Espinós,
2015,
Human molecular genetics.
Nils Koelling,
Marie Bernkopf,
Eduardo Calpena,
2019,
Bioinform..
D. Montaner,
J. García-Peñas,
J. Arpa,
2014,
Neuromuscular Disorders.
Nils Koelling,
Marie Bernkopf,
Eduardo Calpena,
2019,
Bioinform..
S. Twigg,
F. Santos-Simarro,
F. Carceller-Benito,
2023,
Frontiers in Genetics.
S. Twigg,
A. Wilkie,
F. D’Arco,
2022,
Journal of Medical Genetics.
A. Pagnamenta,
N. Popitsch,
G. Lunter,
2023,
Genome Medicine.
S. Twigg,
P. J. van der Spek,
J. Schwabe,
2019,
Human molecular genetics.
A. Pagnamenta,
C. Shaw-Smith,
N. Canham,
2024,
American journal of human genetics.
N. de Leeuw,
S. Twigg,
A. Wilkie,
2023,
Genetics in medicine : official journal of the American College of Medical Genetics.