Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
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Published in JIMD reports (01.01.2022)
Published in JIMD reports (01.01.2022)
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
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Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
Shelihan, Ivan, Rossignol, Elsa, Décarie, Jean-Claude, Bonnefont, Jean-Paul, Brivet, Michèle, Brunel-Guitton, Catherine, Mitchell, Grant A
Published in JIMD reports (01.01.2022)
Published in JIMD reports (01.01.2022)
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