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pro vyhledávání: '"Hager M. Abou Al‐Seood"'
Autor:
Mohammed Almannai, Dana Marafi, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix Levesque, Hasnaa M. Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al‐Otaibi, Asma Al Madhi, Hager M. Abou Al‐Seood, Ali Alasmari, Henry Houlden, Joseph G. Gleeson, Jill V. Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El‐Hattab
Publikováno v:
Clin Genet
Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no furth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ce2bb7aa6264f426cdda2b8a491b72e
https://pubmed.ncbi.nlm.nih.gov/35322404
https://pubmed.ncbi.nlm.nih.gov/35322404
