Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Maki Fukami

Showing results (131-140 of 319) with videos related to

Pageof 32
Sort By:
Case Reports in Endocrinology|July 11, 2025
De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann SyndromeErina Suzuki, Hirohito Shima, Aki Ueda, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 6, 2025
<i>KCNJ11</i> readthrough variant in a patient with congenital hyperinsulinismErika Uehara, Keiichi Sugihara, Ikue Hata, et al.
Scientific Reports|October 6, 2015
Parturition failure in mice lacking Mamld1Mami Miyado, Kenji Miyado, Momori Katsumi, et al.
Reproductive Medicine and Biology|April 11, 2020
Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome YErina Suzuki, Yoshitomo Kobori, Momori Katsumi, et al.
International Journal of Molecular Sciences|June 21, 2017
Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and FertilityMami Miyado, Kaoru Yoshida, Kenji Miyado, et al.
The Journal of Steroid Biochemistry and Molecular Biology|March 5, 2016
Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinomaYasuko Fujisawa, Kimiyoshi Sakaguchi, Hiroyuki Ono, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 22, 2020
45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case reportYasuhiro Kawabe, Mihoko Yamaguchi, Satoshi Miyagaki, et al.
Clinical Case Reports|June 25, 2020
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of <i>RPS6KA3</i> disruption by whole genome sequencingKaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, et al.
Reproductive Medicine and Biology|February 3, 2025
Homozygous <i>FIGLA</i> missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature reviewWataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, et al.
Human Genome Variation|March 23, 2017
A novel C-terminal truncating <i>NR5A1</i> mutation in dizygotic twinsAtsushi Hattori, Hiroaki Zukeran, Maki Igarashi, et al.
Pageof 32

Showing results (131-140 of 319) with videos related to

Sort By:
Pageof 32
Case Reports in Endocrinology|July 11, 2025
De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann SyndromeErina Suzuki, Hirohito Shima, Aki Ueda, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 6, 2025
<i>KCNJ11</i> readthrough variant in a patient with congenital hyperinsulinismErika Uehara, Keiichi Sugihara, Ikue Hata, et al.
Scientific Reports|October 6, 2015
Parturition failure in mice lacking Mamld1Mami Miyado, Kenji Miyado, Momori Katsumi, et al.
Reproductive Medicine and Biology|April 11, 2020
Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome YErina Suzuki, Yoshitomo Kobori, Momori Katsumi, et al.
International Journal of Molecular Sciences|June 21, 2017
Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and FertilityMami Miyado, Kaoru Yoshida, Kenji Miyado, et al.
The Journal of Steroid Biochemistry and Molecular Biology|March 5, 2016
Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinomaYasuko Fujisawa, Kimiyoshi Sakaguchi, Hiroyuki Ono, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 22, 2020
45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case reportYasuhiro Kawabe, Mihoko Yamaguchi, Satoshi Miyagaki, et al.
Clinical Case Reports|June 25, 2020
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of <i>RPS6KA3</i> disruption by whole genome sequencingKaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, et al.
Reproductive Medicine and Biology|February 3, 2025
Homozygous <i>FIGLA</i> missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature reviewWataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, et al.
Human Genome Variation|March 23, 2017
A novel C-terminal truncating <i>NR5A1</i> mutation in dizygotic twinsAtsushi Hattori, Hiroaki Zukeran, Maki Igarashi, et al.
Pageof 32