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Strategic validation of variants of uncertain significance in ECHS1 genetic testing
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
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Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Kishita, Yoshihito ; Sugiura, Ayumu ; Onuki, Takanori ; Ebihara, Tomohiro ; Matsuhashi, Tetsuro ; Shimura, Masaru ; Fushimi, Takuya ; Ichino, Noriko ; Nagatakidani, Yoshie ; Nishihata, Hitomi ; Nitta, Kazuhiro R ; Yatsuka, Yukiko ; Imai-Okazaki, Atsuko ; Wu, Yibo ; Osaka, Hitoshi ; Ohtake, Akira ; Murayama, Kei ; Okazaki, Yasushi

Journal of medical genetics, 2023-10, Vol.60 (10), p.1006-1015 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
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Novel ITPA variants identified by whole genome sequencing and RNA sequencing

Omichi, Nanako ; Kishita, Yoshihito ; Nakama, Mina ; Sasai, Hideo ; Terazawa, Atsushi ; Kobayashi, Emiko ; Fushimi, Takuya ; Sugiyama, Yohei ; Ichimoto, Keiko ; Nitta, Kazuhiro R ; Yatsuka, Yukiko ; Ohtake, Akira ; Murayama, Kei ; Okazaki, Yasushi

Journal of human genetics, 2023-09, Vol.68 (9), p.649-652 [Periódico revisado por pares]

England: Nature Publishing Group

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3
OEDO-SHARAQ system: Multifaceted performances in low-energy RI production and high-resolution spectroscopy
OEDO-SHARAQ system: Multifaceted performances in low-energy RI production and high-resolution spectroscopy
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OEDO-SHARAQ system: Multifaceted performances in low-energy RI production and high-resolution spectroscopy

Michimasa, S. ; Chillery, T. ; Hwang, J.W. ; Sumikama, T. ; Hanai, S. ; Imai, N. ; Dozono, M. ; Ota, S. ; Ahn, D.S. ; Hayakawa, S. ; Hijikata, Y. ; Kameya, K. ; Kawata, K. ; Kojima, R. ; Kusaka, K. ; Li, J. ; Miki, K. ; Ohtake, M. ; Shimizu, Y. ; Suzuki, D. ; Suzuki, H. ; Takeda, H. ; Yako, K. ; Yanagisawa, Y. ; Yoshida, K. ; Yoshimoto, M. ; Shimoura, S.

Nuclear instruments & methods in physics research. Section B, Beam interactions with materials and atoms, 2023-07, Vol.540, p.194-198 [Periódico revisado por pares]

Elsevier B.V

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4
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
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Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

Ebihara, Tomohiro ; Nagatomo, Taro ; Sugiyama, Yohei ; Tsuruoka, Tomoko ; Osone, Yoshiteru ; Shimura, Masaru ; Tajika, Makiko ; Ichimoto, Keiko ; Naruke, Yuki ; Akiyama, Nana ; Lim, Sze Chern ; Yatsuka, Yukiko ; Nitta, Kazuhiro R. ; Kishita, Yoshihito ; Fushimi, Takuya ; Okazaki, Atsuko ; Ohtake, Akira ; Okazaki, Yasushi ; Murayama, Kei

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100912, Article 100912 [Periódico revisado por pares]

Elsevier Inc

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5
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease
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Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease

Imai‐Okazaki, Atsuko ; Nitta, Kazuhiro R. ; Yatsuka, Yukiko ; Sugiura, Ayumu ; Arao, Masato ; Shimura, Masaru ; Ebihara, Tomohiro ; Onuki, Takanori ; Ichimoto, Keiko ; Ohtake, Akira ; Murayama, Kei ; Okazaki, Yasushi

Journal of inherited metabolic disease, 2022-11, Vol.45 (6), p.1143-1150 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
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Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

Ebihara, Tomohiro ; Nagatomo, Taro ; Sugiyama, Yohei ; Tsuruoka, Tomoko ; Osone, Yoshiteru ; Shimura, Masaru ; Tajika, Makiko ; Matsuhashi, Tetsuro ; Ichimoto, Keiko ; Matsunaga, Ayako ; Akiyama, Nana ; Ogawa-Tominaga, Minako ; Yatsuka, Yukiko ; Nitta, Kazuhiro R ; Kishita, Yoshihito ; Fushimi, Takuya ; Imai-Okazaki, Atsuko ; Ohtake, Akira ; Okazaki, Yasushi ; Murayama, Kei

Archives of disease in childhood. Fetal and neonatal edition, 2022-05, Vol.107 (3), p.329-334 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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7
Metabolomics-Driven Identification of the Rate-Limiting Steps in 1-Propanol Production
Metabolomics-Driven Identification of the Rate-Limiting Steps in 1-Propanol Production
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Metabolomics-Driven Identification of the Rate-Limiting Steps in 1-Propanol Production

Ohtake, Toshiyuki ; Kawase, Naoki ; Pontrelli, Sammy ; Nitta, Katsuaki ; Laviña, Walter A ; Shen, Claire R ; Putri, Sastia P ; Liao, James C ; Fukusaki, Eiichiro

Frontiers in microbiology, 2022-04, Vol.13, p.871624-871624 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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8
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
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Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A

Shimura, Masaru ; Onuki, Takanori ; Sugiyama, Yohei ; Matsuhashi, Tetsuro ; Ebihara, Tomohiro ; Fushimi, Takuya ; Tajika, Makiko ; Ichimoto, Keiko ; Matsunaga, Ayako ; Tsuruoka, Tomoko ; Nitta, Kazuhiro R ; Imai-Okazaki, Atsuko ; Yatsuka, Yukiko ; Kishita, Yoshihito ; Ohtake, Akira ; Okazaki, Yasushi ; Murayama, Kei

Mitochondrion, 2022-03, Vol.63, p.1-8 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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9
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
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Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2

Kishita, Yoshihito ; Shimura, Masaru ; Kohda, Masakazu ; Fushimi, Takuya ; Nitta, Kazuhiro R. ; Yatsuka, Yukiko ; Hirose, Shinichi ; Ideguchi, Hiroshi ; Ohtake, Akira ; Murayama, Kei ; Okazaki, Yasushi

Human mutation, 2021-11, Vol.42 (11), p.1422-1428 [Periódico revisado por pares]

United States: Wiley Periodicals Inc

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10
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
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Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients

Imai-Okazaki, Atsuko ; Matsunaga, Ayako ; Yatsuka, Yukiko ; Nitta, Kazuhiro R. ; Kishita, Yoshihito ; Sugiura, Ayumu ; Sugiyama, Yohei ; Fushimi, Takuya ; Shimura, Masaru ; Ichimoto, Keiko ; Tajika, Makiko ; Ogawa-Tominaga, Minako ; Ebihara, Tomohiro ; Matsuhashi, Tetsuro ; Tsuruoka, Tomoko ; Kohda, Masakazu ; Hirata, Tomoko ; Harashima, Hiroko ; Nojiri, Shuko ; Takeda, Atsuhito ; Nakaya, Akihiro ; Kogaki, Shigetoyo ; Sakata, Yasushi ; Ohtake, Akira ; Murayama, Kei ; Okazaki, Yasushi

International journal of cardiology, 2021-10, Vol.341, p.48-55 [Periódico revisado por pares]

Elsevier B.V

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