Hasil Pencarian - Maria Arvio

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  1. 1
    Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

    Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation oleh Minna Kankuri‐Tammilehto, Oili Sauna‐aho, Maria Arvio

    Diterbitkan 2021-12-01
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  2. 2
    Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

    Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome oleh Maria Arvio, Maria Haanpää, Pia Pohjola, Jaana Lähdetie

    Diterbitkan 2021-08-01
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  3. 3
    Intellectual disability in patients with epilepsy with eyelid myoclonias

    Intellectual disability in patients with epilepsy with eyelid myoclonias oleh Maria Arvio, Oili Sauna-aho, Timo Nyrke, Nina Bjelogrlic-Laakso

    Diterbitkan 2018-05-01
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  4. 4
    Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

    Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup) oleh Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen

    Diterbitkan 2023-01-01
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  5. 5
    Cognition in adults with Williams syndrome—A 20‐year follow‐up study

    Cognition in adults with Williams syndrome—A 20‐year follow‐up study oleh Oili Sauna‐aho, Nina Bjelogrlic‐Laakso, Auli Sirén, Virpi Kangasmäki, Maria Arvio

    Diterbitkan 2019-06-01
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  6. 6
    Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

    Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders oleh Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä

    Diterbitkan 2024-05-01
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  7. 7
    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

    O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects oleh Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling

    Diterbitkan 2024-01-01
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