Adriana T Gomes
6PUBLICATIONS
21CO-AUTHORS
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Publications (6)
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|Dec 29, 2025
KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.Adriana Gomes, Álvaro Martín-Rodríguez, Miguel Del Campo
|Aug 13, 2025
MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.Adriana Gomes, Álvaro Martín-Rodríguez, Neil M Shah
|Aug 07, 2025
Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez
|Jul 04, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.Natasha L Rudy, Adriana Gomes, Tinatin Tkemaladze
|Dec 16, 2024
Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).Adriana T Gomes, Amanda Moore, Meagan Cross
|Oct 12, 2023
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.Adriana Gomes, Laura Forero Zapata, Carolina I Galarreta
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Frequent Collaborators
6 joint publications
Lynne M Bird
3 joint publications
Álvaro Martín-Rodríguez
1 joint publications
Carolina I Galarreta
1 joint publications
Tinatin Tkemaladze
1 joint publications
Omar Abdul-Rahman
1 joint publications
Giulia Pascolini
1 joint publications
Giovanni Di Zenzo
1 joint publications
Daniele Castiglia
1 joint publications
Lauren Chad
1 joint publications
Li Hong
