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Journal of Human Genetics
|
October 31, 2007
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
Mitsugu Uematsu, Osamu Sakamoto, Noriko Sugawara, et al.
International Journal of Hematology
|
January 31, 2006
Consensus guideline for diagnosis and treatment of childhood idiopathic thrombocytopenic purpura
Akira Shirahata, Eiichi Ishii, Haruhiko Eguchi, et al.
Journal of Human Genetics
|
November 5, 2010
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa, et al.
Epilepsy Research
|
October 23, 2010
Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly
Mitsugu Uematsu, Kazuhiro Haginoya, Noriko Togashi, et al.
Journal of Human Genetics
|
October 1, 2010
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, et al.
Kidney International
|
March 5, 2010
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease
Takashi Sekine, Mutsuko Konno, Satoshi Sasaki, et al.
European Journal of Haematology
|
June 6, 2013
A case series of CAEBV of children and young adults treated with reduced-intensity conditioning and allogeneic bone marrow transplantation: a single-center study
Yuko Watanabe, Yoji Sasahara, Miki Satoh, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Human Mutation
|
January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.
Immunity
|
November 8, 2006
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
Yoshiyuki Minegishi, Masako Saito, Tomohiro Morio, et al.
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Search research articles
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Showing results (101-110 of 110) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 110 results.
Journal of Human Genetics
|
October 31, 2007
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
Mitsugu Uematsu, Osamu Sakamoto, Noriko Sugawara, et al.
International Journal of Hematology
|
January 31, 2006
Consensus guideline for diagnosis and treatment of childhood idiopathic thrombocytopenic purpura
Akira Shirahata, Eiichi Ishii, Haruhiko Eguchi, et al.
Journal of Human Genetics
|
November 5, 2010
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa, et al.
Epilepsy Research
|
October 23, 2010
Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly
Mitsugu Uematsu, Kazuhiro Haginoya, Noriko Togashi, et al.
Journal of Human Genetics
|
October 1, 2010
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, et al.
Kidney International
|
March 5, 2010
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease
Takashi Sekine, Mutsuko Konno, Satoshi Sasaki, et al.
European Journal of Haematology
|
June 6, 2013
A case series of CAEBV of children and young adults treated with reduced-intensity conditioning and allogeneic bone marrow transplantation: a single-center study
Yuko Watanabe, Yoji Sasahara, Miki Satoh, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Human Mutation
|
January 7, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, et al.
Immunity
|
November 8, 2006
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
Yoshiyuki Minegishi, Masako Saito, Tomohiro Morio, et al.
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of 11