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Maki Fukami

Showing results (121-130 of 319) with videos related to

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European Journal of Human Genetics : EJHG|October 30, 2014
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotypeMasayo Kagami, Seiji Mizuno, Keiko Matsubara, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutationKeisuke Nagasaki, Tadashi Asami, Hidetoshi Sato, et al.
European Journal of Medical Genetics|November 19, 2022
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMRTatsuki Urakawa, Junichi Ozawa, Masato Tanaka, et al.
Heliyon|September 23, 2024
DNA methylation changes in the genome of patients with hypogonadotropic hypogonadismErina Suzuki, Kazuhiko Nakabayashi, Saki Aoto, et al.
The Journal of Clinical Endocrinology and Metabolism|September 9, 2011
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sitesShun Soneda, Takashi Yazawa, Maki Fukami, et al.
Cytogenetic and Genome Research|July 3, 2019
Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex DevelopmentErika Uehara, Atsushi Hattori, Hirohito Shima, et al.
Endocrine Journal|July 20, 2016
Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasiaYasuhiro Naiki, Mami Miyado, Reiko Horikawa, et al.
Endocrine Journal|March 12, 2013
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiencyRie Yamaguchi, Fumiko Kato, Tomonobu Hasegawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|May 24, 2016
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolitesYuhei Koyama, Keiko Homma, Maki Fukami, et al.
Journal of Human Genetics|November 28, 2014
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1CShinichi Nakashima, Fumiko Kato, Tomoki Kosho, et al.
Pageof 32

Showing results (121-130 of 319) with videos related to

Sort By:
Pageof 32
European Journal of Human Genetics : EJHG|October 30, 2014
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotypeMasayo Kagami, Seiji Mizuno, Keiko Matsubara, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutationKeisuke Nagasaki, Tadashi Asami, Hidetoshi Sato, et al.
European Journal of Medical Genetics|November 19, 2022
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMRTatsuki Urakawa, Junichi Ozawa, Masato Tanaka, et al.
Heliyon|September 23, 2024
DNA methylation changes in the genome of patients with hypogonadotropic hypogonadismErina Suzuki, Kazuhiko Nakabayashi, Saki Aoto, et al.
The Journal of Clinical Endocrinology and Metabolism|September 9, 2011
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sitesShun Soneda, Takashi Yazawa, Maki Fukami, et al.
Cytogenetic and Genome Research|July 3, 2019
Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex DevelopmentErika Uehara, Atsushi Hattori, Hirohito Shima, et al.
Endocrine Journal|July 20, 2016
Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasiaYasuhiro Naiki, Mami Miyado, Reiko Horikawa, et al.
Endocrine Journal|March 12, 2013
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiencyRie Yamaguchi, Fumiko Kato, Tomonobu Hasegawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|May 24, 2016
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolitesYuhei Koyama, Keiko Homma, Maki Fukami, et al.
Journal of Human Genetics|November 28, 2014
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1CShinichi Nakashima, Fumiko Kato, Tomoki Kosho, et al.
Pageof 32