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1دورية أكاديمية
المؤلفون: Kenjiro Sugiyama, Hideaki Moteki, Shin-ichiro Kitajiri, Tomohiro Kitano, Shin-ya Nishio, Tomomi Yamaguchi, Keiko Wakui, Satoko Abe, Akiko Ozaki, Remi Motegi, Hirooki Matsui, Masato Teraoka, Yumiko Kobayashi, Tomoki Kosho, Shin-ichi Usami
المصدر: Genes, Vol 10, Iss 9, p 715 (2019)
مصطلحات موضوعية: OTOA, DFNB22, hearing loss, copy number variations, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Kumiko Yanagi, Tadashi Kaname, Keiko Wakui, Ohiko Hashimoto, Yoshimitsu Fukushima, Kenji Naritomi
المصدر: Autism Research and Treatment, Vol 2012 (2012)
مصطلحات موضوعية: Psychiatry, RC435-571
وصف الملف: electronic resource
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3
المؤلفون: Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho
المصدر: American Journal of Medical Genetics Part A. 191:37-51
مصطلحات موضوعية: Collagen Type III, DNA Copy Number Variations, Pregnancy, Genetics, Humans, Female, Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome, Type IV, Genetic Testing, Genetics (clinical)
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4
المؤلفون: Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Onishi, Hiromi Kamura, Kazuaki Kojima, Hiroki Kikuchi, Miho Terao, Tohru Sugawara, Ohsuke Migita, Masayo Kagami, Tsuyoshi Isojima, Yu Yamaguchi, Keiko Wakui, Hirofumi Ohashi, Kenji Shimizu, Seiji Mizuno, Nobuhiko Okamoto, Yoshimitsu Fukushima, Fumio Takada, Kenjiro Kosaki, Shuji Takada, Hidenori Akutsu, Kiyoe Ura, Kazuhiko Nakabayashi, Kenichiro Hata
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8bf314c316d110e2bb983466a7a44174
https://doi.org/10.1101/2023.01.06.522834 -
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المؤلفون: Osamu Miyazaki, Shun Shimada, Riku Hamada, Tomoki Kosho, Kaori Hara-Isono, Tomomi Yamaguchi, Tsutomu Ogata, Keiko Wakui, Maki Fukami, Kenji Kurosawa, Masayo Kagami, Keiko Matsubara, Koji Muroya
المصدر: Journal of Human Genetics. 66:1121-1126
مصطلحات موضوعية: 0301 basic medicine, Spondyloepiphyseal dysplasia, Pathology, medicine.medical_specialty, business.industry, Silver–Russell syndrome, Schimke immuno-osseous dysplasia, Chromosome, 030105 genetics & heredity, medicine.disease, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, Uniparental Isodisomy, Dysplasia, parasitic diseases, Genetics, medicine, business, Genetics (clinical), Congenital disorder
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6
المؤلفون: Hisashi Shimojo, Yoshihiko Hidaka, Norio Omori, Tomomi Yamaguchi, Daisuke Matsuoka, Kazumoto Iijima, Takeshi Uehara, Yozo Nakazawa, Tomoki Kosho, Hirokazu Morokawa, Kandai Nozu, China Nagano, Hiroaki Hanafusa, Yoshimitsu Fukushima, Keiko Wakui, Katsuya Nakamura, Tsubasa Murase, Nao Chiba, Shun Shimada, Takanori Tsukahara, Hironori Minoura, Kyoko Takano
المصدر: American Journal of Medical Genetics Part A. 185:2175-2179
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, medicine.medical_treatment, 030105 genetics & heredity, medicine.disease, End stage renal disease, Steroid-resistant nephrotic syndrome, Peritoneal dialysis, 03 medical and health sciences, 030104 developmental biology, Focal segmental glomerulosclerosis, Renal pathology, Genetics, Slit diaphragm, medicine, Missense mutation, business, Nephrotic syndrome, Genetics (clinical)
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7
المؤلفون: Kumiko Yanagi, Yoshiteru Azuma, Atsushi Fujita, Yutaka Harita, Ai Motomura, Tadashi Kaname, Takeshi Mizuguchi, Yoichiro Oda, Naomichi Matsumoto, Keiko Wakui, Yoichi Matsubara, Kenichiro Hata, Hiroko Ogata, Yuri Uchiyama
المصدر: Journal of Human Genetics. 64:1005-1014
مصطلحات موضوعية: 0301 basic medicine, Adolescent, DNA Copy Number Variations, Chromosome Disorders, Chromosomal translocation, 030105 genetics & heredity, Biology, Translocation, Genetic, 03 medical and health sciences, Epilepsy, Gene Duplication, Chromosome Duplication, Exome Sequencing, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, Infant, West Syndrome, medicine.disease, Phenotype, Pedigree, Fibroblast Growth Factors, 030104 developmental biology, Neurodevelopmental Disorders, dup, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Chromosomes, Human, Pair 9, Spasms, Infantile, 3q29 microduplication
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8
المؤلفون: Keiko Wakui, Hiromitsu Miyazaki, Yumiko Kobayashi, Shin-ichi Usami, Hirofumi Sakaguchi, Kozo Kumakawa, Natsumi Uehara, Tomomi Yamaguchi, Yoshimitsu Fukushima, Tomoki Kosho, Takashi Ishino, Kenji Ohyama, Satoko Abe, Hideaki Moteki, Shin-ya Nishio, Masahiro Takahashi, Rina Matsuoka, Yoh Yokota
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, Proband, lcsh:Medicine, Deafness, Audiology, Gjb2 gene, 0302 clinical medicine, Medicine, Copy-number variation, Child, lcsh:Science, Sequence Deletion, Comparative Genomic Hybridization, education.field_of_study, Multidisciplinary, Homozygote, Middle Aged, Child, Preschool, Intercellular Signaling Peptides and Proteins, Female, Sensorineural hearing loss, medicine.symptom, STRC, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Hearing loss, Hearing Loss, Sensorineural, Population, Polymorphism, Single Nucleotide, Article, Young Adult, 03 medical and health sciences, otorhinolaryngologic diseases, Humans, Hearing Loss, education, Aged, business.industry, lcsh:R, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, lcsh:Q, business, 030217 neurology & neurosurgery, Comparative genomic hybridization
وصف الملف: application/pdf
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9
المؤلفون: Kaori, Hara-Isono, Keiko, Matsubara, Riku, Hamada, Shun, Shimada, Tomomi, Yamaguchi, Keiko, Wakui, Osamu, Miyazaki, Koji, Muroya, Kenji, Kurosawa, Maki, Fukami, Tsutomu, Ogata, Tomoki, Kosho, Masayo, Kagami
المصدر: Journal of human genetics. 66(11)
مصطلحات موضوعية: Male, Nephrotic Syndrome, Arteriosclerosis, Genome, Human, Primary Immunodeficiency Diseases, DNA Helicases, Infant, Newborn, DNA Methylation, Uniparental Disomy, Osteochondrodysplasias, Genomic Imprinting, Silver-Russell Syndrome, Phenotype, Child, Preschool, Chromosomes, Human, Pair 2, Humans, Female, Child, Pulmonary Embolism
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10
المؤلفون: Keiko Wakui, Tomoki Kosho, Akiko Ozaki, Yumiko Kobayashi, Hirooki Matsui, Hideaki Moteki, Shin-ichiro Kitajiri, Remi Motegi, Kenjiro Sugiyama, Shin-ya Nishio, Satoko Abe, Masato Teraoka, Shin-ichi Usami, Tomomi Yamaguchi, Tomohiro Kitano
المصدر: Genes
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 715 (2019)مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, medicine.medical_specialty, lcsh:QH426-470, Adolescent, DNA Copy Number Variations, Hearing loss, Locus (genetics), Audiology, Gene mutation, GPI-Linked Proteins, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Audiometry, Gene Frequency, Genetics, medicine, otorhinolaryngologic diseases, Humans, Copy-number variation, Allele, Child, Genetics (clinical), hearing loss, DFNB22, business.industry, Mid-frequency hearing loss, Infant, OTOA, lcsh:Genetics, 030104 developmental biology, copy number variations, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, Female, medicine.symptom, business
وصف الملف: application/pdf
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