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1دورية أكاديمية
المؤلفون: Rizky Ramdhani, Akhmad Mustafa, Safendra Siregar, Jupiter Sibarani, Tjahjodjati Tjahjodjati, Ahmedz Widiasta, Rini Rossanti
المصدر: Urology Case Reports, Vol 51, Iss , Pp 102623- (2023)
مصطلحات موضوعية: 2,8- dihydroxyadenine nephrolithiasis, APRT deficiency, Nephropathy, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu
المصدر: Kidney International Reports, Vol 8, Iss 5, Pp 1127-1129 (2023)
مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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4دورية أكاديمية
المؤلفون: Tomohiko Yamamura, Tomoko Horinouchi, Tomomi Adachi, Maki Terakawa, Yutaka Takaoka, Kohei Omachi, Minoru Takasato, Kiyosumi Takaishi, Takao Shoji, Yoshiyuki Onishi, Yoshito Kanazawa, Makoto Koizumi, Yasuko Tomono, Aki Sugano, Akemi Shono, Shogo Minamikawa, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Misato Kamura, Yutaka Harita, Kenichiro Miura, Shoichiro Kanda, Naoya Morisada, Rini Rossanti, Ming Juan Ye, Yoshimi Nozu, Masafumi Matsuo, Hirofumi Kai, Kazumoto Iijima, Kandai Nozu
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5دورية أكاديمية
المؤلفون: Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
مصطلحات موضوعية: aberrant splicing, mild phenotype, splicing assay, synonymous variant, X‐linked Alport syndrome, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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6دورية أكاديمية
المؤلفون: Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
مصطلحات موضوعية: Alport syndrome, next‐generation sequencing, podocyte‐related gene, targeted exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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7دورية أكاديمية
المؤلفون: Rini Rossanti, Dida Akhmad Gurnida, Eddy Fadlyana
المصدر: Paediatrica Indonesiana, Vol 55, Iss 5, Pp 277-81 (2015)
مصطلحات موضوعية: brain-derived neurotrophic factor, obese adolescents, physical fitness, short term memory, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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8
المؤلفون: Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu
المصدر: Kidney International Reports. 7(4):857-866
مصطلحات موضوعية: ADTKD, Nephrology, NGS, long-read sequencing, SMRT sequencing, ADTKD-MUC1, MCKD
وصف الملف: application/pdf
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9
المؤلفون: Nana Sakakibara, Kandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, Ming Juan Ye, Shinya Ishiko, Yuya Aoto, Rini Rossanti, Riku Hamada, Nobuhiko Okamoto, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Naoya Morisada
المصدر: Journal of Human Genetics. 67:427-440
مصطلحات موضوعية: Adolescent, Japan, Autism Spectrum Disorder, Intellectual Disability, Mutation, Genetics, High-Throughput Nucleotide Sequencing, Humans, Kidney Diseases, Cystic, Child, Ciliopathies, Genetics (clinical), Retrospective Studies
وصف الملف: application/pdf
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10
المؤلفون: China Nagano, Koichi Nakanishi, Tomohiko Yamamura, Takeshi Ninchoji, Hiroshi Kaito, Rini Rossanti, Masafumi Matsuo, Yuko Shima, Sadayuki Nagai, Kazumoto Iijima, Riku Hamada, Yuya Aoto, Naoya Morisada, Nana Sakakibara, Shinya Ishiko, Eri Okada, Tomoko Horinouchi, Atsushi Kondo, Kandai Nozu
المصدر: Clinical and Experimental Nephrology
مصطلحات موضوعية: Adult, medicine.medical_specialty, Caroli disease, Physiology, Receptors, Cell Surface, PKHD1, Gastroenterology, Exon, Japan, Pregnancy, Physiology (medical), Internal medicine, medicine, Humans, Missense mutation, Genetic Testing, Allele, Minigene assay, Autosomal recessive polycystic kidney disease, Polycystic Kidney, Autosomal Recessive, business.industry, medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Congenital hypothyroidism, Phenotype, Nephrology, Mutation, Female, Original Article, business, Hepatic fibrosis, Kidney disease, Minigene
وصف الملف: application/pdf