Márcia Martins

Refining the phenotype of <i>α‐1a Tubulin </i>(<i>TUBA1A</i>) mutation in patients with classical lissencephaly

DJ Morris‐Rosendahl, Juliane Najm, A.M.A. Lachmeijer et al. · Clinical Genetics · 2008 · 91 citations

Developmental Anomaly, Classical Lissencephaly, Recurrent Mutation +11

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes

Elı́sio Costa, Emília Vieira, Márcia Martins et al. · Blood Cells Molecules and Diseases · 2005 · 32 citations · Full text

Genetic Disorder, Medicine, Genetics +11

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Saiqa Yasmeen, Katrine Lund, Anne De Paepe et al. · European Journal of Human Genetics · 2013 · 29 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

The new neuromuscular disease related with defects in the <scp>ASC</scp>‐1 complex: report of a second case confirms <i><scp>ASCC1</scp></i> involvement

Jorge Oliveira, Márcia Martins, Rosário Pinto‐Leite et al. · Clinical Genetics · 2017 · 27 citations