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Maki Fukami

Showing results (71-80 of 319) with videos related to

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Human Genome Variation|January 26, 2026
Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short statureChisato Narita, Hidekazu Utsunomiya, Junpei Hamada, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 8, 2026
Severe infantile obesity with a maternal <i>GNAS</i> deletion and multi-locus imprinting disturbance including hypomethylation of the <i>KCNQ1OT1</i>:TSS-DMRTatsuki Urakawa, Masaharu Shimada, Shinichiro Sano, et al.
The Journal of Clinical Endocrinology and Metabolism|July 17, 2008
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promotersSumito Dateki, Maki Fukami, Naoko Sato, et al.
Journal of Human Genetics|January 10, 2018
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicismKikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, et al.
American Journal of Medical Genetics. Part A|June 23, 2019
SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosisKenichiro Ogushi, Koji Muroya, Hirohito Shima, et al.
Journal of Medical Genetics|July 29, 2022
<i>CDKN1C</i> hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited <i>KCNQ1OT1</i>:TSS-DMRKaori Hara-Isono, Kazuki Yamazawa, Satsuki Tanaka, et al.
Clinical Genetics|January 15, 2026
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic HypoplasiaMichihiko Aramaki, Hibiki Doi, Yuko Kato-Fukui, et al.
Reproduction (Cambridge, England)|November 16, 2016
Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinusMami Miyado, Kenji Miyado, Akihiro Nakamura, et al.
Human Genome Variation|July 26, 2024
Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short statureHibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, et al.
Hormone Research in Paediatrics|January 22, 2026
A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case ReportNobuhiko Koga, Yuko Katoh-Fukui, Michihiko Aramaki, et al.
Pageof 32

Showing results (71-80 of 319) with videos related to

Sort By:
Pageof 32
Human Genome Variation|January 26, 2026
Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short statureChisato Narita, Hidekazu Utsunomiya, Junpei Hamada, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 8, 2026
Severe infantile obesity with a maternal <i>GNAS</i> deletion and multi-locus imprinting disturbance including hypomethylation of the <i>KCNQ1OT1</i>:TSS-DMRTatsuki Urakawa, Masaharu Shimada, Shinichiro Sano, et al.
The Journal of Clinical Endocrinology and Metabolism|July 17, 2008
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promotersSumito Dateki, Maki Fukami, Naoko Sato, et al.
Journal of Human Genetics|January 10, 2018
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicismKikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, et al.
American Journal of Medical Genetics. Part A|June 23, 2019
SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosisKenichiro Ogushi, Koji Muroya, Hirohito Shima, et al.
Journal of Medical Genetics|July 29, 2022
<i>CDKN1C</i> hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited <i>KCNQ1OT1</i>:TSS-DMRKaori Hara-Isono, Kazuki Yamazawa, Satsuki Tanaka, et al.
Clinical Genetics|January 15, 2026
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic HypoplasiaMichihiko Aramaki, Hibiki Doi, Yuko Kato-Fukui, et al.
Reproduction (Cambridge, England)|November 16, 2016
Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinusMami Miyado, Kenji Miyado, Akihiro Nakamura, et al.
Human Genome Variation|July 26, 2024
Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short statureHibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, et al.
Hormone Research in Paediatrics|January 22, 2026
A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case ReportNobuhiko Koga, Yuko Katoh-Fukui, Michihiko Aramaki, et al.
Pageof 32