David Valle

7PUBLICATIONS
31CO-AUTHORS
MechanobiologyAerodynamics (excl. hypersonic aerodynamics)Haematological tumoursGraph, social and multimedia dataMedical biotechnology diagnostics (incl. biosensors)
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Publications (7)

|Dec 12, 2023
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.

Angie C Jelin, Elizabeth Wohler, Renan Martin

|Apr 12, 2023
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida

|Feb 10, 2023
Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L.

S E Mitchell, R P Martin, P Terry

|May 23, 2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.

Sangwoo T Han, Katherine J Anderson, Hans T Bjornsson

|Feb 16, 2022
The impact of GeneMatcher on international data sharing and collaboration.

Ada Hamosh, Elizabeth Wohler, Renan Martin

|Aug 17, 2021
Victor McKusick and his short course.

Charles Wray, Gregory Cox, David Valle

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