المؤلفون: Li Yang, Jing Peng, Xiao-Meng Yin, Nan Pang, Chen Chen, Teng-Hui Wu, Xiao-Min Zou, Fei Yin

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: epilepsy, global developmental delay, GPI-anchored proteins, hypotonia, MCAHS3, multi-malformations, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fgene.2018.00153/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d672961ab28241cf8d447d49d5394fbe

المؤلفون: Nadia Skauli, Sean Wallace, Samuel C. C. Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T. Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo

المصدر: Genes, Vol 7, Iss 12, p 108 (2016)

مصطلحات موضوعية: cerebellar atrophy, craniofacial dysmorphism, developmental delay, epilepsy, GPI-anchors, MCAHS3, PIGT, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2073-4425/7/12/108; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/4b066bd739d14ac5b7f9a4d779b618c4

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المؤلفون: Petter Strømme, Eirik Frengen, Samuel C. C. Chiang, Nadia Skauli, Asbjørg Stray-Pedersen, Yenan T. Bryceson, Sean Wallace, Asbjørn Holmgren, Doriana Misceo, Tuva Barøy

المصدر: Genes
Genes, Vol 7, Iss 12, p 108 (2016)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, lcsh:QH426-470, Case Report, Biology, MCAHS3, 03 medical and health sciences, Epilepsy, cerebellar atrophy, Intellectual disability, craniofacial dysmorphism, Genetics, medicine, Missense mutation, PIGT, Global developmental delay, Craniofacial, Genetics (clinical), medicine.disease, Phenotype, GPI-anchors, Hypotonia, developmental delay, lcsh:Genetics, 030104 developmental biology, epilepsy, Cerebellar atrophy, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbdeede021e0dedd0a9e5e18c9071ed6
http://europepmc.org/articles/PMC5192484

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المؤلفون: Ranjan A; Department of Neonatology, Rani Hospital, Ranchi, IND., Alam MS; Department of Neonatology, Rani Hospital, Ranchi, IND., Kumar V; Department of Neonatology, Rani Hospital, Ranchi, IND., Kumar R; Department of Neonatology, Rani Hospital, Ranchi, IND., Saifullah KM; Department of Neonatology, Rani Hospital, Ranchi, IND., Fakih S; Department of Neonatology, Rani Hospital, Ranchi, IND.

المصدر: Cureus [Cureus] 2024 May 21; Vol. 16 (5), pp. e60737. Date of Electronic Publication: 2024 May 21 (Print Publication: 2024).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE