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[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H, Illés A, Nagy S, Beke A, Árvai K, Elekes T, Horváth E, Ferenczy M, Mosonyi P, Lukács V, Klujber V, Török O, Kiss Z, Tardy E, Tidrenczel Z, Tobiás B, Balla B, Lakatos P, Kósa J, Takács I. Pikó H, et al. Among authors: nagy s. Orv Hetil. 2024 Apr 7;165(14):523-530. doi: 10.1556/650.2024.33028. Print 2024 Apr 7. Orv Hetil. 2024. PMID: 38583142 Hungarian.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: nagy s. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
Reference data on estrogen metabolome in healthy pregnancy.
Karvaly G, Kovács K, Gyarmatig M, Gerszi D, Nagy S, Jalal DA, Tóth Z, Vasarhelyi B, Gyarmati B. Karvaly G, et al. Among authors: nagy s. Mol Cell Probes. 2024 Apr;74:101953. doi: 10.1016/j.mcp.2024.101953. Epub 2024 Mar 4. Mol Cell Probes. 2024. PMID: 38432490 Free article.
626 results