Marta Pacio-Míguez
3PUBLICATIONS
9CO-AUTHORS
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Publications (3)
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|Jul 02, 2022
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.Marta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon
|Jul 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.Sulagna Tina Kushary, Anya Revah-Politi, Subit Barua
|Aug 19, 2020
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.Marta Pacio Miguez, Fernando Santos-Simarro, Sixto García-Miñaúr
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Frequent Collaborators
3 joint publications
Fernando Santos-Simarro
3 joint publications
María Palomares-Bralo
2 joint publications
Mario Solís
1 joint publications
Sulagna Tina Kushary
1 joint publications
Anya Revah-Politi
1 joint publications
Andrea Accogli
1 joint publications
Nicola Brunetti-Pierri
1 joint publications
Marcello Scala
1 joint publications
Kwame Anyane Yeboa
