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1دورية أكاديمية
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
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2
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
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3
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
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4دورية أكاديمية
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5دورية أكاديمية
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6
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 -
7دورية أكاديمية
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8دورية أكاديمية
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9مورد إلكتروني
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
33958710https://doi.org/10.1038/s10038-021-00932-y