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1
المؤلفون: Shoji Kagami, Tomohiro Kohmoto, Rizu Takahashi, Aya Goji, Issei Imoto, Hiromichi Ito, Yoshihiro Toda, Kiyoshi Masuda, Narumi Tokaji, Masako Saito, Takuya Naruto, Tatsuo Mori, Shoichiro Tange
المصدر: American journal of medical genetics. Part A. 176(3)
مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, DNA Mutational Analysis, Rett syndrome, medicine.disease_cause, MECP2, 03 medical and health sciences, Exon, 0302 clinical medicine, Neurodevelopmental disorder, mental disorders, Gene duplication, Genetics, Rett Syndrome, Medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Genetic Association Studies, Mutation, Base Sequence, business.industry, Neonatal encephalopathy, Brain, Exons, medicine.disease, Phenotype, Magnetic Resonance Imaging, Alternative Splicing, 030104 developmental biology, Child, Preschool, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c99c02872ae1f0f38ebfdc5c04a6ecb4Test
https://pubmed.ncbi.nlm.nih.gov/29341476Test -
2
المؤلفون: Eiichi Ishii, Issei Imoto, Kiyoshi Masuda, Masaaki Ohta, Mariko Eguchi, Toshifumi Yamauchi, Minenori Eguchi-Ishimae, Takashi Higaki, Erina Ozaki
المصدر: American journal of medical genetics. Part A. 176(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Anion Transport Proteins, Organic Anion Transporters, Genes, Recessive, Biology, medicine.disease_cause, Frameshift mutation, Mitochondrial Proteins, 03 medical and health sciences, Exon, Genetics, medicine, Polymicrogyria, DiGeorge Syndrome, Humans, Genetic Predisposition to Disease, Allele, Agenesis of the corpus callosum, Cerebellar hypoplasia, Genetics (clinical), Alleles, Genetic Association Studies, In Situ Hybridization, Fluorescence, Mutation, Base Sequence, Brain Diseases, Metabolic, Inborn, Sequence Analysis, DNA, medicine.disease, Phenotype, 030104 developmental biology, Female, Agenesis of Corpus Callosum
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9567b1b28e29fc9f9b3c52b686c754dbTest
https://pubmed.ncbi.nlm.nih.gov/29265763Test -
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المؤلفون: Miki Watanabe, Yuji Fujita, Takuya Naruto, Hideaki Horikawa, Kiyoshi Masuda, Tomohiro Kohmoto, Sae Ujiro, Issei Imoto, Nana Okamoto
المصدر: American journal of medical genetics. Part A. 173(4)
مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Non-allelic homologous recombination, Copy number analysis, Limb Deformities, Congenital, Organic Anion Transporters, Biology, Homology (biology), 03 medical and health sciences, Asian People, Mesomelia, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Homologous Recombination, Genetics (clinical), Genes, Dominant, Sequence Deletion, Base Sequence, Breakpoint, High-Throughput Nucleotide Sequencing, Synostosis, medicine.disease, Osteochondrodysplasia, 030104 developmental biology, Long Interspersed Nucleotide Elements, Female, Sulfotransferases, Homologous recombination, Chromosomes, Human, Pair 8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0ed0f93aa824878dd3885d713dfd30bTest
https://pubmed.ncbi.nlm.nih.gov/28328141Test -
4
المؤلفون: Hidehito Inagaki, Takuya Naruto, Mikio Morine, Miki Watanabe, Tomohiro Kohmoto, Kiyoshi Masuda, Kazuhisa Maeda, Hiroki Kurahashi, Issei Imoto
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Biology, medicine.disease_cause, Heart Septal Defects, Atrial, chemistry.chemical_compound, Germline mutation, Sense (molecular biology), Genetics, medicine, Humans, Abnormalities, Multiple, Upper Extremity Deformities, Congenital, Gene, Genetics (clinical), Sequence (medicine), Mutation, Holt–Oram syndrome, Infant, Newborn, medicine.disease, Prognosis, Molecular biology, Stop codon, Mutagenesis, Insertional, chemistry, Female, T-Box Domain Proteins, DNA, Gene Deletion, Lower Extremity Deformities, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768743c2b97fd0f704e641f8d1abc627Test
https://pubmed.ncbi.nlm.nih.gov/26780237Test