المؤلفون: Yuhua Pan, Xiaoling Guo, Xiaoqiang Zhou, Yue Liu, Jingli Lian, Tingting Yang, Xiang Huang, Fei He, Jian Zhang, Buling Wu, Fu Xiong, Xingkun Yang

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: global developmental delay (GDD), compound heterozygous missense mutations, corpus callosum anomaly, FRMD4A, intellectual disability, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.775488/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/39ec616e47284a779f0000077845db2c

المؤلفون: Yurie Ogura, Hisato Suzuki, Takeshi Yoshida, Hiroshi Futagawa, Tomoko Uehara, Hiromi Hirata, Rikako Sanuki, Hiroshi Yoshihashi, Atsushi Yokoyama, Kohei Matsubara, Toshiyuki Takano-Shimizu, Kenjiro Kosaki, Toshiki Takenouchi, Mamiko Yamada

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Male, Mutant, Mutation, Missense, Biology, medicine.disease_cause, Corpus Callosum, model organisms, Genetics, medicine, Missense mutation, Animals, Humans, Genetic Predisposition to Disease, Allele, Child, Zebrafish, Genetics (clinical), Loss function, Alleles, Mutation, loss‐of‐function, Gene Expression Regulation, Developmental, Infant, Original Articles, biology.organism_classification, Megalencephaly, NFIA, Disease Models, Animal, NFI Transcription Factors, corpus callosum anomaly, Amino Acid Substitution, Neurodevelopmental Disorders, Ectopic expression, Drosophila, Female, Original Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8f0261ae5f93375bc9cf536f0f55f4
https://pubmed.ncbi.nlm.nih.gov/33973697

المؤلفون: Ryutaro Kira, Kozue Kobayashi, Kyoko Hoshino, Tadashi Shiohama, Sachiko Miyamoto, Akio Ebata, Akira Hojo, Masayuki Furuyama, Hirotomo Saitsu, Nobuko Moriyama, Mitsuko Nakashima, Pin Fee Chong, Manabu Suzuki, Tatsuya Yamamoto, Takuya Hiraide, Hiroko Matsushita, Tomohide Goto, Mitsuhiro Kato, Hiroko Ikeda, Mayumi Matsufuji

المصدر: Journal of human genetics. 66(11)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, DNA Copy Number Variations, colpocephaly, Motor Disorders, 030105 genetics & heredity, Biology, Corpus callosum, Nervous System Malformations, Genetic analysis, whole exome sequencing, Congenital Abnormalities, Corpus Callosum, 03 medical and health sciences, Lateral ventricles, Colpocephaly, Young Adult, Japan, Intellectual Disability, Lateral Ventricles, Intellectual disability, Exome Sequencing, Genetics, medicine, Humans, Copy-number variation, Child, Genetics (clinical), Exome sequencing, Brain Diseases, Corpus callosum anomaly, Brain, medicine.disease, 030104 developmental biology, somatic mosaicism, Phenotype, Child, Preschool, Mutation, Etiology, Female, Agenesis of Corpus Callosum, copy number variants

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceac93c67e6fb9057a6ef123f1c96ab1
https://pubmed.ncbi.nlm.nih.gov/33958710

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المؤلفون: Betul Ayca Ozdere, Besir Erdogmus, Burhan Yazici

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Splenium, Corpus callosum, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Lateral ventricles, 0302 clinical medicine, Lateral Ventricles, medicine, Humans, magnetic resonance imaging, Radiology, Nuclear Medicine and imaging, Radiological and Ultrasound Technology, Corpus Callosum Agenesis, business.industry, Rostrum, General Medicine, Anatomy, medicine.disease, Hypoplasia, corpus callosum anomaly, nervous system, Child, Preschool, 030220 oncology & carcinogenesis, Agenesis, epilepsy, Female, Agenesis of Corpus Callosum, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4ac5336520599a10d45871bbb2c78c
https://hdl.handle.net/20.500.12684/6189

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مصطلحات الفهرس: Corpus callosum anomaly, colpocephaly, copy number variants, somatic mosaicism, whole exome sequencing, Journal Article, AM

URL: http://hdl.handle.net/10271/00003914
https://hama-med.repo.nii.ac.jp/?action=repository_action_common_download&item_id=3790&item_no=1&attribute_id=31&file_no=2
https://doi.org/10.1038/s10038-021-00932-y
33958710
https://doi.org/10.1038/s10038-021-00932-y