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Maki Fukami

Showing results (21-30 of 319) with videos related to

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Molecular Syndromology|May 20, 2016
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureMaki Fukami, Atsuhito Seki, Tsutomu Ogata
Annals of Pediatric Endocrinology & Metabolism|July 3, 2024
Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disordersYoko Kuroki, Atsushi Hattori, Keiko Matsubara, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 3, 2024
Initial clinical manifestations in a young male with <i>RFX6</i>-variant-associated diabetesKazuhisa Akiba, Hiroaki Zukeran, Yukihiro Hasegawa, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists|October 18, 2012
Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex developmentMaki Fukami, Keiko Homma, Tomonobu Hasegawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 1, 2024
A novel variant of <i>IGSF1</i> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkupsYoshiko Yamamura, Maki Fukami, Misayo Matsuyama, et al.
Reproductive Medicine and Biology|May 1, 2023
Genetic variants of G-protein coupled receptors associated with pubertal disordersErina Suzuki, Mami Miyado, Yoko Kuroki, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 23, 2021
Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiencyKazuhisa Akiba, Keiko Aso, Yukihiro Hasegawa, et al.
Endocrine Journal|December 22, 2024
Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literatureKazuhisa Akiba, Keiko Matsubara, Atsushi Hattori, et al.
Frontiers in Genetics|March 17, 2020
<i>De Novo</i> Small Supernumerary Marker Chromosomes Arising From Partial Trisomy RescueKeiko Matsubara, Kaede Yanagida, Toshiro Nagai, et al.
European Journal of Endocrinology|September 30, 2003
Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian functionMaki Fukami, Nobutake Matsuo, Tomonobu Hasegawa, et al.
Pageof 32

Showing results (21-30 of 319) with videos related to

Sort By:
Pageof 32
Molecular Syndromology|May 20, 2016
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureMaki Fukami, Atsuhito Seki, Tsutomu Ogata
Annals of Pediatric Endocrinology & Metabolism|July 3, 2024
Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disordersYoko Kuroki, Atsushi Hattori, Keiko Matsubara, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 3, 2024
Initial clinical manifestations in a young male with <i>RFX6</i>-variant-associated diabetesKazuhisa Akiba, Hiroaki Zukeran, Yukihiro Hasegawa, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists|October 18, 2012
Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex developmentMaki Fukami, Keiko Homma, Tomonobu Hasegawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 1, 2024
A novel variant of <i>IGSF1</i> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkupsYoshiko Yamamura, Maki Fukami, Misayo Matsuyama, et al.
Reproductive Medicine and Biology|May 1, 2023
Genetic variants of G-protein coupled receptors associated with pubertal disordersErina Suzuki, Mami Miyado, Yoko Kuroki, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 23, 2021
Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiencyKazuhisa Akiba, Keiko Aso, Yukihiro Hasegawa, et al.
Endocrine Journal|December 22, 2024
Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literatureKazuhisa Akiba, Keiko Matsubara, Atsushi Hattori, et al.
Frontiers in Genetics|March 17, 2020
<i>De Novo</i> Small Supernumerary Marker Chromosomes Arising From Partial Trisomy RescueKeiko Matsubara, Kaede Yanagida, Toshiro Nagai, et al.
European Journal of Endocrinology|September 30, 2003
Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian functionMaki Fukami, Nobutake Matsuo, Tomonobu Hasegawa, et al.
Pageof 32