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Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.

Caputo D, Solazzi R, Castellotti B, Panteghini C, Sciacca FL, Visani E, Freri E, Ragona F, Canafoglia L, Zibordi F, Zorzi G, Gandelli S, Gellera C, Franceschetti S, Nardocci N, Granata T.

Epilepsia · 2025-10-24

DOI: 10.1111/epi.18669PMID: 41133379

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
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De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

Stamou M, Tompkins M, Bow H, Kearney J, Akram M, Brand H, Zhao X, Zaheri S, Georgopoulos NA, Chorin O, Khavkin Y, Kedar T, Lippincott MF, Plummer L, Talkowski M, Shen Y, Wu DK, Balasubramanian R, Wray S, Seminara SB.

Genet Med · 2025-10-24

DOI: 10.1016/j.gim.2025.101623PMID: 41765865

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

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