Gabriele Trimarchi

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(<scp>P139L)</scp> of the <scp><i>CAMK2B</i></scp> gene: A case report and brief review

Susanna Rizzi, Carlotta Spagnoli, Grazia Salerno et al. · American Journal of Medical Genetics Part A · 2020 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17

Expanding the phenotype of <scp>Wiedemann‐Steiner</scp> syndrome: Craniovertebral junction anomalies

Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski et al. · American Journal of Medical Genetics Part A · 2020 · 17 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<scp>ALG8‐CDG</scp>: Molecular and phenotypic expansion suggests clinical management guidelines

Daniah Albokhari, Bobby G. Ng, Alis Guberinic et al. · Journal of Inherited Metabolic Disease · 2022 · 15 citations · Full text

Medicine, Hematology, Immunogenetics +5

A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing &lt;i&gt;KCNJ10&lt;/i&gt; truncating mutations

Yoko Suzumoto, Valeria Columbano, Luciano Gervasi et al. · Intractable & Rare Diseases Research · 2021 · 12 citations · Full text

Life Sciences, Genetics, Neurology +16