Jorge A L Alexander
26PUBLICATIONS
114CO-AUTHORS
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Publications (26)
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|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Ilaria Parenti, Alina Hesters, Marta Gil-Salvador
|Mar 03, 2026
Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.Alexander A L Jorge, Assunta Albanese, Michael Højby
|Oct 25, 2025
Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola
|Jul 09, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.Russell Gear, Paul Kalitsis, Melissa Glass
|May 14, 2025
Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.Aline Guimarães Faria, Luciana R Montenegro, Alexander Augusto Lima Jorge
|Dec 08, 2024
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.Eduardo Da Cás, José Ricardo Magliocco Ceroni, Guilherme Lopes Yamamoto
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Frequent Collaborators
7 joint publications
Berenice Bilharinho Mendonca
5 joint publications
Antônio Marcondes Lerario
4 joint publications
Alexsandra Christianne Malaquias
4 joint publications
Debora Romeo Bertola
2 joint publications
Mariana Ferreira de Assis Funari
2 joint publications
Mirian Y Nishi
2 joint publications
Luciana R Montenegro
2 joint publications
Luciani R S Carvalho
2 joint publications
Nathalia Liberatoscioli Menezes Andrade
2 joint publications
Ivo J P Arnhold
