المؤلفون: Ethiraj Ravindran, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: NUP85, microcephaly, brain development, speech disorder, MCPH-SCKS, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1124886/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/ed1e140840424257b23b4291c8670577

المؤلفون: Ravindran, Ethiraj, Lesca, Gaetan, Januel, Louis, Goldgruber, Linus, Dickmanns, Achim, Margot, Henri, Kaindl, Angela M.

مصطلحات موضوعية: NUP85, microcephaly, brain development, speech disorder, MCPH-SCKS, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/40914; http://dx.doi.org/10.17169/refubium-40635

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/40914
https://doi.org/10.17169/refubium-40635
https://doi.org/10.3389/fneur.2023.1124886

المؤلفون: Ethiraj Ravindran, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, NUP85, microcephaly, brain development, speech disorder, MCPH-SCKS

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_Compound_heterozygous_NUP85_variants_cause_autosomal_recessive_primary_microcephaly_docx/22057730

الاتاحة: https://doi.org/10.3389/fneur.2023.1124886.s001
https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_Compound_heterozygous_NUP85_variants_cause_autosomal_recessive_primary_microcephaly_docx/22057730

المؤلفون: Bianchi F. T., Berto G. E., Di Cunto F.

المساهمون: Bianchi F.T., Berto G.E., Di Cunto F.

مصطلحات موضوعية: BER, Centrosome, Chromosome stability, DNA damage, Fanconi anemia, HR, MCPH, Microcephaly, Mitosi, NER, NHEJ, SCKS, DNA Repair, Genomic Instability, Human, Neurogenesis

Relation: info:eu-repo/semantics/altIdentifier/pmid/30116853; info:eu-repo/semantics/altIdentifier/wos/WOS:000445868900006; volume:75; issue:21; firstpage:3963; lastpage:3976; numberofpages:14; journal:CELLULAR AND MOLECULAR LIFE SCIENCES; http://hdl.handle.net/2318/1723670; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85051757621; http://link.springer.de/link/service/journals/00018/index.htm

الاتاحة: http://hdl.handle.net/2318/1723670
https://doi.org/10.1007/s00018-018-2900-2
http://link.springer.de/link/service/journals/00018/index.htm

المساهمون: Ravindran, Ethiraj, Jühlen, Ramona, Vieira-Vieira, Carlos H, Ha, Thuong, Arts, Peer, Jackson, Matilda R, Scott, Hamish, Kaindl, Angela M

مصطلحات موضوعية: autosomal recessive microcephaly, Seckel syndrome spectrum disorders, microcephaly, biallelic variants, NUP85, MCPH–SCKS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1231::6b7361404b4d3373d2ebe9c73c31cd06
https://hdl.handle.net/11541.2/28654

المؤلفون: F. Bianchi, Gaia Berto, Ferdinando Di Cunto

مصطلحات موضوعية: 0301 basic medicine, Genome instability, DNA Repair, DNA damage, DNA repair, Neurogenesis, Central nervous system, Mitosis, Biology, Genomic Instability, 03 medical and health sciences, Cellular and Molecular Neuroscience, HR, medicine, Humans, BER, Centrosome, Chromosome stability, Fanconi anemia, MCPH, Microcephaly, NER, NHEJ, SCKS, DNA Damage, Fanconi Anemia, Molecular Biology, Pharmacology, Cell Biology, 030104 developmental biology, medicine.anatomical_structure, Cerebral cortex, Molecular Medicine, Neuroscience, Function (biology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22dd2344703c4a20ee4e9df971812ba8
http://hdl.handle.net/2318/1723670