المؤلفون: Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/5c4b0d3d0ea14f9fa7378606182803e5

المؤلفون: Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi, Tohru Yorifuji

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: ENG, ACVRL1, Hereditary hemorrhagic telangiectasia, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/bfec0ba19882459295a902b5d8841a68

المؤلفون: Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817

المؤلفون: Kazuo Sengoku, Toshinobu Miyamoto, Masashi Iijima, Gaku Minase, Hiroshi Okada, Takeshi Shin, Yasuaki Saijo

المصدر: Journal of Obstetrics and Gynaecology. 39:434-436

مصطلحات موضوعية: Male, Polymorphism, Single Nucleotide, Male infertility, Andrology, Sertoli cell-only syndrome, Mice, 03 medical and health sciences, 0302 clinical medicine, Asian People, Japan, Animals, Humans, Medicine, Gene, DNA Polymerase beta, Polymerase, Azoospermia, Retrospective Studies, 030219 obstetrics & reproductive medicine, Male factor, biology, Sertoli Cell-Only Syndrome, business.industry, Obstetrics and Gynecology, medicine.disease, Poly(A) Polymerase Beta, Cytoplasm, Case-Control Studies, 030220 oncology & carcinogenesis, biology.protein, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0870221d0ecae7aaaaa7270313109e92
https://doi.org/10.1080/01443615.2018.1504205

المؤلفون: Gaku Minase, Hiroto Ueda, Kazuo Sengoku, Hiroshi Okada, Takeshi Shin, Toshinobu Miyamoto

المصدر: Reproductive Medicine and Biology

مصطلحات موضوعية: 0301 basic medicine, Infertility, Y chromosome microdeletion, medicine.medical_treatment, Review Article, Biology, medicine.disease_cause, Y chromosome, male infertility, Male infertility, 03 medical and health sciences, medicine, Review Articles, Chromosome 12, Azoospermia, Genetics, Mutation, Assisted reproductive technology, azoospermia, Cell Biology, medicine.disease, 030104 developmental biology, Reproductive Medicine, PLK4, mutation, SYCP3

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51cbd21b53424eaeffb206a8dcd2955
http://europepmc.org/articles/PMC5661822

المؤلفون: Toshinobu Miyamoto, Hiroto Ueda, Gaku Minase, Yasushi Miyagawa, Mikio Namiki, Masashi Iijima, Yasuaki Saijo, Kazuo Sengoku

المصدر: Human Fertility. 20:217-220

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, SCOS, Cell Cycle Proteins, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Male infertility, Sertoli cell-only syndrome, Andrology, 03 medical and health sciences, Asian People, medicine, Humans, RAD21L, Genetic Predisposition to Disease, Allele frequency, Gene, Azoospermia, Sertoli Cell-Only Syndrome, urogenital system, Obstetrics and Gynecology, General Medicine, single-nucleotide polymorphism, medicine.disease, meiotic arrest, 030104 developmental biology, Reproductive Medicine, 旭川医科大学：博士（医学）（甲第523号）, 学位授与年月日:平成30年3月23日, Spermatogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb8e54d0fc7b8ad04970af9a64c37252
https://doi.org/10.1080/14647273.2017.1292004

المؤلفون: Yasuaki Saijo, Mitsuko Nakashima, Masashi Iijima, N. Matsumoto, Hiroto Ueda, Mikio Namiki, Gaku Minase, Toshinobu Miyamoto, Kazuo Sengoku

المصدر: Clinical and Experimental Obstetrics & Gynecology. 45:187-189

مصطلحات موضوعية: Sertoli cell-only syndrome, medicine.medical_specialty, Endocrinology, Reproductive Medicine, business.industry, Internal medicine, medicine, Obstetrics and Gynecology, Single-nucleotide polymorphism, Risk factor, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::339afbd5f43a7d3639b449ba62101973
https://doi.org/10.12891/ceog3797.2018

المؤلفون: Greta Gillies, Kayoko Saito, Lesley M McGregor, Takeshi Mizuguchi, Mathieu Marie-Laure, Takanori Yamagata, Takeo Kato, George McGillivray, Kate Gibson, Ok Hwa Kim, Satoko Miyatake, Gaku Minase, Satomi Mitsuhashi, Mari Matsuo, Yoshiya Hisaeda, Seiji Mizuno, Helen Cox, Annick Toutain, Hitoshi Osaka, David Mowat, Lakshmi Mehta, Patrick Yap, Kougoro Iwanaga, Kimihiko Oishi, Takashi Sato, Rani Sachdev, Kate Pope, Jan Liebelt, Salima El Chehadeh, Atsushi Fujita, Shubha R. Phadke, Ken Saida, Futoshi Sekiguchi, Yoshiteru Azuma, Seema Kapoor, Eriko Koshimizu, Nobuhiko Okamoto, Jeff M. Milunsky, Keisuke Nagasaki, Lorne A. Clarke, Winnie Peitee Ong, Naomi Tsuchida, Richard J. Leventer, Sumito Dateki, Takashi Matsuoka, Bertrand Isidor, Tomoki Kosho, Tiong Yang Tan, Marie Pierre Cordier, Tomonari Awaya, Susan M. White, Junpei Hamada, Yoshikazu Shimoji, Hiroshi Suzumura, Kazuhiro Iwama, Hirofumi Ohashi, Keng Wee Teik, Eri Imagawa, Hiromi Aoi, Yoshinori Tsurusaki, Manisha Goyal, Paul J. Lockhart, Masahiko Kawai, Ghada M H Abdel-Salam, Anju Shukla, David Coman, Kohei Hamanaka, Muzhirah Haniffa, Yasutsugu Chinen, Katta M. Girisha, Atsushi Takata, Naomichi Matsumoto, Massimiliano Rossi, Noriko Miyake, Toshifumi Suzuki, Kenji Shimizu, Chirag Patel, Yuri Uchiyama, Nerine Gregersen

المصدر: Journal of human genetics. 64(12)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Micrognathism, 030105 genetics & heredity, Genetic analysis, Cohort Studies, 03 medical and health sciences, Intellectual Disability, Genotype, otorhinolaryngologic diseases, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Copy-number variation, Coffin–Siris syndrome, Genetics (clinical), Genetic Association Studies, Coarse facial features, business.industry, Genetic Variation, medicine.disease, 030104 developmental biology, Face, Medical genetics, business, Hand Deformities, Congenital, Neck, Congenital disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5e484e640b986ac28bbf2ab6381bfe1
https://pubmed.ncbi.nlm.nih.gov/31530938

المؤلفون: Satomi Mitsuhashi, Kohei Hamanaka, Rie Miyata, Kazuki Tsukamoto, Tokito Yamaguchi, Satoko Miyatake, Taikan Oboshi, Toshiyuki Itai, Gaku Minase, Tomokazu Kimizu, Masayuki Shimono, Eriko Koshimizu, Takashi Shiihara, Kazuyuki Nakamura, Yasunari Sakai, Jun Tohyama, Masano Amamoto, Shinsaku Yoshitomi, Kazuhiro Iwama, Masayasu Ohta, Futoshi Sekiguchi, Rina Takahashi, Hirotomo Saitsu, Tohru Okanishi, Noriko Miyake, Shin Nabatame, Atsushi Takata, Masaya Kubota, Yohane Miyata, Rumiko Takayama, Naomi Tsuchida, Tomohiro Sakaguchi, Kouhei Den, Mizue Iai, Takeshi Mizuguchi, Tomohide Goto, Yukitoshi Takahashi, Shinichi Hirabayashi, Ken Saida, Yuri Uchiyama, Eri Imagawa, Hiroshi Matsumoto, Hirofumi Kashii, Katsumi Imai, Nobuhiko Okamoto, Kaori Aiba, Hitoshi Osaka, Mitsuhiro Kato, Hiromi Aoi, Saoko Takeshita, Yu Kobayashi, Ryutaro Kira, Naomichi Matsumoto, Ichiro Kuki, Mitsuko Nakashima, Munetsugu Hara, Kazuhiro Haginoya, Chihiro Ohba, Jun Matsui, Jun-ichi Takanashi, Atsushi Fujita, Kenji Yokochi, Masayuki Sasaki, Shimpei Baba, Hiroko Ikeda

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Genetics of the nervous system, General Physics and Astronomy, Epilepsies, Myoclonic, 02 engineering and technology, medicine.disease_cause, Japan, Polymorphism (computer science), Guanine Nucleotide Exchange Factors, DNA (Cytosine-5-)-Methyltransferases, lcsh:Science, Exome sequencing, Genetics, Principal Component Analysis, Mutation, Neurofibromin 1, Multidisciplinary, Disease genetics, 021001 nanoscience & nanotechnology, symbols, 0210 nano-technology, Spasms, Infantile, Science, TRPM Cation Channels, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, symbols.namesake, Asian People, Exome Sequencing, Genetic variation, medicine, Humans, Gene, Epilepsy, Lennox Gastaut Syndrome, Case-control study, Genetic Variation, Infant, General Chemistry, Genetic architecture, Adaptor Proteins, Vesicular Transport, Logistic Models, 030104 developmental biology, Case-Control Studies, Next-generation sequencing, Mendelian inheritance, lcsh:Q

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b583ee6b60c079588be46adcfa8fed34
https://doi.org/10.1038/s41467-019-10482-9

المؤلفون: Praveen K. Raju, Areeg El-Gharbawy, Nissan V. Baratang, Adam C. Gunning, Eriko Koshimizu, Philippe M. Campeau, Naomichi Matsumoto, Anil Vasudev Israni, Tobias B. Haack, Peter Krawitz, Jurgis Strautmanis, Jessica Sebastian, Esther M. Maier, Pengfei Liu, Samarth Kulshrestha, Ishwar C. Verma, Justine Rousseau, Florian Erger, Nami Araya, Janis Stavusis, Satoko Miyatake, Marieke Joosten, Manami Akasaka, Jill A. Rosenfeld, Elsa Rossignol, Mais Hashem, Atsushi Kamei, Inna Inashkina, Maria Eugenia Rocha, Hesham Aldhalaan, Gaku Minase, Alexej Knaus, Norbert F. Ajeawung, Gabriela Jones, Jenneke van den Ende, Thi Tuyet Mai Nguyen, Julia Baptista, Yoshiko Murakami, Ratna Dua Puri, Baiba Lace, Zita Krumina, Taroh Kinoshita, Janine Altmüller, Sian Ellard, Fowzan S. Alkuraya

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 105(2), 384-394. Cell Press
The American journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Glycosylphosphatidylinositols, Hearing Loss, Sensorineural, Nails, Malformed, Biology, Mannosyltransferases, Severity of Illness Index, Article, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Metabolic Diseases, DOOR syndrome, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Polymicrogyria, Humans, Child, Genetics (clinical), Neurogenesis, Infant, Newborn, Infant, Peripheral Nervous System Diseases, medicine.disease, Phenotype, 3. Good health, Elevated alkaline phosphatase, Pedigree, 030104 developmental biology, Peripheral neuropathy, Child, Preschool, Immunology, Mutation, Female, Human medicine, medicine.symptom, Hand Deformities, Congenital, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d77dee6ee2f558bafdf94adaa31082f
https://pubmed.ncbi.nlm.nih.gov/31256876