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Maki Fukami

Showing results (51-60 of 319) with videos related to

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Clinical Genetics|May 29, 2026
GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic HerniaNobuhiko Koga, Yuko Katoh-Fukui, Sadahiro Fukui, et al.
Human Genome Variation|April 16, 2016
Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and XpMisako Okuno, Tsutomu Ogata, Kazuhiko Nakabayashi, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|January 8, 2025
<i>ABCC8</i> haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemiaErika Uehara, Naoto Shimura, Keiko Matsubara, et al.
The Journal of Clinical Endocrinology and Metabolism|January 29, 2021
Long-term Effect of Aromatase Inhibition in Aromatase Excess SyndromeGerhard Binder, Akie Nakamura, Roland Schweizer, et al.
Endocrine Journal|December 16, 2014
Fertility preservation in a family with a novel NR5A1 mutationHiroko Yagi, Masaki Takagi, Masafumi Kon, et al.
Endocrine Journal|July 8, 2016
Long-term clinical course in three patients with MAMLD1 mutationsYasuko Fujisawa, Maki Fukami, Tomonobu Hasegawa, et al.
European Journal of Medical Genetics|January 23, 2018
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancyKazuhito Sekiguchi, Tomoyo Itonaga, Tomoki Maeda, et al.
Human Reproduction (Oxford, England)|April 23, 2005
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case reportNaoko Sato, Tomonobu Hasegawa, Naoaki Hori, et al.
Endocrine Journal|April 7, 2015
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type IbShinichiro Sano, Hiromi Iwata, Keiko Matsubara, et al.
Minerva Pediatrics|June 6, 2024
Machine learning trial to detect sex differences in simple sticker arts of 1606 preschool childrenKeiko Matsubara, Yuko Ohgami, Koji Okamura, et al.
Pageof 32

Showing results (51-60 of 319) with videos related to

Sort By:
Pageof 32
Clinical Genetics|May 29, 2026
GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic HerniaNobuhiko Koga, Yuko Katoh-Fukui, Sadahiro Fukui, et al.
Human Genome Variation|April 16, 2016
Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and XpMisako Okuno, Tsutomu Ogata, Kazuhiko Nakabayashi, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|January 8, 2025
<i>ABCC8</i> haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemiaErika Uehara, Naoto Shimura, Keiko Matsubara, et al.
The Journal of Clinical Endocrinology and Metabolism|January 29, 2021
Long-term Effect of Aromatase Inhibition in Aromatase Excess SyndromeGerhard Binder, Akie Nakamura, Roland Schweizer, et al.
Endocrine Journal|December 16, 2014
Fertility preservation in a family with a novel NR5A1 mutationHiroko Yagi, Masaki Takagi, Masafumi Kon, et al.
Endocrine Journal|July 8, 2016
Long-term clinical course in three patients with MAMLD1 mutationsYasuko Fujisawa, Maki Fukami, Tomonobu Hasegawa, et al.
European Journal of Medical Genetics|January 23, 2018
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancyKazuhito Sekiguchi, Tomoyo Itonaga, Tomoki Maeda, et al.
Human Reproduction (Oxford, England)|April 23, 2005
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case reportNaoko Sato, Tomonobu Hasegawa, Naoaki Hori, et al.
Endocrine Journal|April 7, 2015
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type IbShinichiro Sano, Hiromi Iwata, Keiko Matsubara, et al.
Minerva Pediatrics|June 6, 2024
Machine learning trial to detect sex differences in simple sticker arts of 1606 preschool childrenKeiko Matsubara, Yuko Ohgami, Koji Okamura, et al.
Pageof 32