Arjan Pm de Brouwer
6PUBLICATIONS
15CO-AUTHORS
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Publications (6)
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|Oct 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie
|Jan 21, 2022
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira
|Apr 30, 2021
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.Stijn van de Plassche, Arjan Pm de Brouwer
|Dec 28, 2020
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.Nuno Maia, Ana Rita Soares, Ana Maria Fortuna
|Nov 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.D L Polla, E J Bhoj, J B G M Verheij
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Frequent Collaborators
3 joint publications
Nuno Maia
2 joint publications
Rosário Santos
2 joint publications
Paula Jorge
1 joint publications
Ana Rita Soares
1 joint publications
Ana Maria Fortuna
1 joint publications
Isabel Marques
1 joint publications
Ana Gonçalves
1 joint publications
Manuel Melo Pires
1 joint publications
Cláudia Oliveira
1 joint publications
Ariana Jacome
