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1
المؤلفون: Kohji Kato, Seiji Mizuno, Shinji Saitoh, Fuyuki Miya, Yasuyoshi Oka
المصدر: Journal of Human Genetics. 66:491-498
مصطلحات موضوعية: 0301 basic medicine, Genetics, Cutis marmorata, biology, Immunoprecipitation, Signal transducing adaptor protein, 030105 genetics & heredity, Proteomics, Phenotype, 03 medical and health sciences, 030104 developmental biology, Ubiquitin, biology.protein, medicine, Missense mutation, Global developmental delay, medicine.symptom, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cb56fb4293d37db23d7cbf2a2a880d6dTest
https://doi.org/10.1038/s10038-020-00868-9Test -
2
المؤلفون: Alan R. Lehmann, Jenny Morton, Yuichiro Hara, Tomoo Ogi, Seiji Mizuno, Kohji Kato, Miho Toyama, Evangeline Wasmer
المصدر: American Journal of Medical Genetics Part A. 185:282-285
مصطلحات موضوعية: Delayed puberty, Genetics, Microcephaly, Juvenile cataract, business.industry, Genetic disorder, medicine.disease, Compound heterozygosity, Frameshift mutation, Intellectual disability, medicine, medicine.symptom, business, Genetics (clinical), Loss function
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd782af648ffa450d30da83f343e657fTest
https://doi.org/10.1002/ajmg.a.61927Test -
3
المؤلفون: Tadashi Kaname, Ken Inoue, Keiko Yamamoto-Shimojima, Kohji Kato, Hideki Muramatsu, Toshiyuki Yamamoto, Taichi Imaizumi, Yusuke Okuno, Yusuke Aoki
المصدر: Journal of Human Genetics. 64:665-671
مصطلحات موضوعية: 0301 basic medicine, Pelizaeus-Merzbacher Disease, 030105 genetics & heredity, Biology, Decitabine, Asymptomatic, Piperazines, Cell Line, Frameshift mutation, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Spastic, Humans, Allele, Child, Frameshift Mutation, Myelin Proteolipid Protein, Gene, Alleles, Genetics (clinical), Exome sequencing, Paraplegia, Chromosomes, Human, X, RNA, Molecular biology, 030104 developmental biology, Cell culture, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ca26c20146dd23595a28e34dfd313dTest
https://doi.org/10.1038/s10038-019-0600-xTest -
4
المؤلفون: Yoshinao Wada, Yohei Iguchi, Miho Toyama, Kohji Kato, Tomoo Ogi, Nobuhiko Okamoto, Ryoichi Nakamura, Kentaro Sahashi, Kunihiko Araki, Daisuke Ito, Kensuke Hamada, Tomohiko Nakamura, Masahisa Katsuno
المصدر: Epilepsy Research. 164:106371
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Cerebellar Ataxia, Receptors, Cell Surface, Frameshift mutation, Pathogenesis, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, Tremor, medicine, Humans, Generalized epilepsy, Cerebellar ataxia, business.industry, Parkinsonism, medicine.disease, Pedigree, 030104 developmental biology, Epilepsy, Absence, Neurology, Mutation, Mutation (genetic algorithm), Epilepsy, Generalized, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea48b73e6181c52044865fb95d27921Test
https://doi.org/10.1016/j.eplepsyres.2020.106371Test -
5
المؤلفون: Shinobu Fukumura, Ikumi Hori, Seiji Mizuno, Yutaka Negishi, Ayako Hattori, Daisuke Ieda, Kei Ohashi, Mie Inaba, Shinji Saitoh, Kohji Kato, Naoko Kurahashi, Koichi Maruyama
المصدر: Braindevelopment. 40(8)
مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Dolichocephaly, Developmental Disabilities, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Germline mutation, Developmental Neuroscience, Internal medicine, medicine, PTEN, Hamartoma, Humans, Child, biology, business.industry, Macrocephaly, PTEN Phosphohydrolase, Cancer, General Medicine, medicine.disease, Megalencephaly, 030104 developmental biology, Phenotype, Child, Preschool, Face, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, biology.protein, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4c8a4c72a34d617c47fa65f1867baaTest
https://pubmed.ncbi.nlm.nih.gov/29752200Test