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Maki Fukami

Showing results (101-110 of 319) with videos related to

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Endocrine Journal|March 14, 2014
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorderKeiko Matsubara, Naoki Kataoka, Satoko Ogita, et al.
Journal of Human Genetics|March 7, 2008
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosisMaki Fukami, Sumito Dateki, Fumiko Kato, et al.
Molecular Genetics and Metabolism|April 23, 2010
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiencyMaki Fukami, Toshiro Nagai, Hiroshi Mochizuki, et al.
European Journal of Endocrinology|January 9, 2016
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through pubertyYoshihiro Maruo, Keisuke Nagasaki, Katsuyuki Matsui, et al.
Clinical Epigenetics|September 1, 2015
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regionsKeiko Matsubara, Masayo Kagami, Kazuhiko Nakabayashi, et al.
Journal of the Endocrine Society|August 16, 2021
Role of Liquid-Liquid Separation in Endocrine and Living CellsKazuhisa Akiba, Yuko Katoh-Fukui, Kei Yoshida, et al.
Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders|January 17, 2018
Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case ReportYukio Horikawa, Mayumi Enya, Makie Komagata, et al.
Clinical Epigenetics|July 24, 2020
Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 yearsKaori Hara-Isono, Keiko Matsubara, Masashi Mikami, et al.
European Journal of Medical Genetics|April 15, 2022
A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMRHiromune Narusawa, Sunao Sasaki, Kaori Hara-Isono, et al.
Molecular Genetics & Genomic Medicine|May 7, 2019
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidismSatoko Umino, Miyuki Kitamura, Yuko Katoh-Fukui, et al.
Pageof 32

Showing results (101-110 of 319) with videos related to

Sort By:
Pageof 32
Endocrine Journal|March 14, 2014
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorderKeiko Matsubara, Naoki Kataoka, Satoko Ogita, et al.
Journal of Human Genetics|March 7, 2008
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosisMaki Fukami, Sumito Dateki, Fumiko Kato, et al.
Molecular Genetics and Metabolism|April 23, 2010
Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiencyMaki Fukami, Toshiro Nagai, Hiroshi Mochizuki, et al.
European Journal of Endocrinology|January 9, 2016
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through pubertyYoshihiro Maruo, Keisuke Nagasaki, Katsuyuki Matsui, et al.
Clinical Epigenetics|September 1, 2015
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regionsKeiko Matsubara, Masayo Kagami, Kazuhiko Nakabayashi, et al.
Journal of the Endocrine Society|August 16, 2021
Role of Liquid-Liquid Separation in Endocrine and Living CellsKazuhisa Akiba, Yuko Katoh-Fukui, Kei Yoshida, et al.
Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders|January 17, 2018
Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case ReportYukio Horikawa, Mayumi Enya, Makie Komagata, et al.
Clinical Epigenetics|July 24, 2020
Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 yearsKaori Hara-Isono, Keiko Matsubara, Masashi Mikami, et al.
European Journal of Medical Genetics|April 15, 2022
A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMRHiromune Narusawa, Sunao Sasaki, Kaori Hara-Isono, et al.
Molecular Genetics & Genomic Medicine|May 7, 2019
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidismSatoko Umino, Miyuki Kitamura, Yuko Katoh-Fukui, et al.
Pageof 32