المؤلفون: Sijing Ren, Yu Kong, Ruihan Liu, Qiubo Li, Xuehua Shen, Qing-Xia Kong

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: tubulinopathies, TUBA1A mutation, lissencephaly, epilepsy, neuronal migration, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1367305/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/c6bd7e6b0eaf4deca92469b873a79b26

المؤلفون: Sijing Ren, Yu Kong, Ruihan Liu, Qiubo Li, Xuehua Shen, Qing-Xia Kong

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, tubulinopathies, TUBA1A mutation, lissencephaly, epilepsy, neuronal migration

Relation: https://figshare.com/articles/dataset/Datasheet1_Lissencephaly_caused_by_a_de_novo_mutation_in_tubulin_TUBA1A_a_case_report_and_literature_review_pdf/25815517

الاتاحة: https://doi.org/10.3389/fped.2024.1367305.s001
https://figshare.com/articles/dataset/Datasheet1_Lissencephaly_caused_by_a_de_novo_mutation_in_tubulin_TUBA1A_a_case_report_and_literature_review_pdf/25815517

المؤلفون: Jansen, Anna, De Vlaeminck, Yannick, Lissens, Willy, Seneca, Sara, De Meirleir, Linda

المساهمون: Public Health Care, Department of Embryology and Genetics, Pediatrics

مصطلحات موضوعية: TUBA1A, neonatal seizures, TUBA1A mutation, microcephaly, lissencephaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3599c6a00211a03fa0ed87b82be4494b
https://biblio.vub.ac.be/vubir/a-novel-mutation-in-tuba1a-causes-lissencephaly-presenting-with-microcephaly-and-neonatal-seizures(5a7479a5-9647-4afe-8df0-01e043c2ea12).html