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Nobuhiko Okamoto

Showing results (1-10 of 340) with videos related to

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American Journal of Medical Genetics. Part A|February 23, 2019
Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutationNobuhiko Okamoto
Journal of Mass Spectrometry : JMS|July 18, 2020
Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylationYoshinao Wada, Nobuhiko Okamoto
Mass Spectrometry (Tokyo, Japan)|September 5, 2022
Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate <i>O</i>-glycan Site Occupancy and Sialylation in Congenital Disorders of GlycosylationYoshinao Wada, Nobuhiko Okamoto
Mass Spectrometry (Tokyo, Japan)|September 5, 2022
Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of GlycosylationYoshinao Wada, Nobuhiko Okamoto
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1ATomoki Kosho, Nobuhiko Okamoto,
American Journal of Medical Genetics. Part A|January 8, 2016
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasiaKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Glycobiology|May 22, 2012
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patientYoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto
Mass Spectrometry (Tokyo, Japan)|January 30, 2023
Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of GlycosylationYoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto
Congenital Anomalies|April 23, 2015
Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patientsKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Congenital Anomalies|December 14, 2016
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patientKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Pageof 34

Showing results (1-10 of 340) with videos related to

Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|February 23, 2019
Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutationNobuhiko Okamoto
Journal of Mass Spectrometry : JMS|July 18, 2020
Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylationYoshinao Wada, Nobuhiko Okamoto
Mass Spectrometry (Tokyo, Japan)|September 5, 2022
Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate <i>O</i>-glycan Site Occupancy and Sialylation in Congenital Disorders of GlycosylationYoshinao Wada, Nobuhiko Okamoto
Mass Spectrometry (Tokyo, Japan)|September 5, 2022
Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of GlycosylationYoshinao Wada, Nobuhiko Okamoto
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1ATomoki Kosho, Nobuhiko Okamoto,
American Journal of Medical Genetics. Part A|January 8, 2016
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasiaKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Glycobiology|May 22, 2012
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patientYoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto
Mass Spectrometry (Tokyo, Japan)|January 30, 2023
Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of GlycosylationYoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto
Congenital Anomalies|April 23, 2015
Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patientsKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Congenital Anomalies|December 14, 2016
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patientKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Pageof 34