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American Journal of Medical Genetics. Part A
|
June 24, 2004
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS
Noriko Miyake, Naoki Harada, Osamu Shimokawa, et al.
The Journal of Biological Chemistry
|
September 12, 2015
Glyceraldehyde-3-phosphate Dehydrogenase Aggregates Accelerate Amyloid-β Amyloidogenesis in Alzheimer Disease
Masanori Itakura, Hidemitsu Nakajima, Takeya Kubo, et al.
Journal of Human Genetics
|
April 17, 2002
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
Shinji Kondoh, Hirobumi Sugawara, Naoki Harada, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2005
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
Osamu Shimokawa, Noriko Miyake, Takazumi Yoshimura, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2006
Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses
Shoko Miura, Kiyonori Miura, Toshiyuki Yamamoto, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2005
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome
Noriko Miyake, Remco Visser, Akira Kinoshita, et al.
Bioorganic & Medicinal Chemistry Letters
|
October 26, 2013
The sulfamide moiety affords higher inhibitory activity and oral bioavailability to a series of coumarin dual selective RAF/MEK inhibitors
Toshihiro Aoki, Ikumi Hyohdoh, Noriyuki Furuichi, et al.
Journal of Human Genetics
|
June 29, 2004
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
Junichi Kamimura, Keiko Wakui, Hiroko Kadowaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 20, 2005
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
Naohiro Kurotaki, Joseph J Shen, Mayumi Touyama, et al.
American Journal of Medical Genetics. Part A
|
February 17, 2007
Congenital arhinia: molecular-genetic analysis of five patients
Daisuke Sato, Osamu Shimokawa, Naoki Harada, et al.
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Search research articles
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Showing results (231-240 of 261) with videos related to
Sort By:
Page
of 27
American Journal of Medical Genetics. Part A
|
June 24, 2004
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS
Noriko Miyake, Naoki Harada, Osamu Shimokawa, et al.
The Journal of Biological Chemistry
|
September 12, 2015
Glyceraldehyde-3-phosphate Dehydrogenase Aggregates Accelerate Amyloid-β Amyloidogenesis in Alzheimer Disease
Masanori Itakura, Hidemitsu Nakajima, Takeya Kubo, et al.
Journal of Human Genetics
|
April 17, 2002
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
Shinji Kondoh, Hirobumi Sugawara, Naoki Harada, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2005
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
Osamu Shimokawa, Noriko Miyake, Takazumi Yoshimura, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2006
Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses
Shoko Miura, Kiyonori Miura, Toshiyuki Yamamoto, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2005
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome
Noriko Miyake, Remco Visser, Akira Kinoshita, et al.
Bioorganic & Medicinal Chemistry Letters
|
October 26, 2013
The sulfamide moiety affords higher inhibitory activity and oral bioavailability to a series of coumarin dual selective RAF/MEK inhibitors
Toshihiro Aoki, Ikumi Hyohdoh, Noriyuki Furuichi, et al.
Journal of Human Genetics
|
June 29, 2004
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
Junichi Kamimura, Keiko Wakui, Hiroko Kadowaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 20, 2005
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
Naohiro Kurotaki, Joseph J Shen, Mayumi Touyama, et al.
American Journal of Medical Genetics. Part A
|
February 17, 2007
Congenital arhinia: molecular-genetic analysis of five patients
Daisuke Sato, Osamu Shimokawa, Naoki Harada, et al.
Page
of 27