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Aging Cell
|
October 23, 2020
Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation
Harumi Fujita, Takashi Sasaki, Tatsuo Miyamoto, et al.
Journal of Cellular and Molecular Medicine
|
March 25, 2017
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty
Maki Fukami, Erina Suzuki, Yoko Izumi, et al.
Journal of the American Society of Nephrology : JASN
|
April 10, 2019
Germline-Derived Gain-of-Function Variants of Gs<i>α</i>-Coding <i>GNAS</i> Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis
Mami Miyado, Maki Fukami, Shuji Takada, et al.
Journal of Human Genetics
|
August 25, 2018
Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, et al.
Journal of Human Genetics
|
July 1, 2016
Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, et al.
Human Mutation
|
February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
Shigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Pediatric Research
|
April 17, 2008
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor
Kanako Kojima-ishii, Shigeo Kure, Akiko Ichinohe, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 8, 2018
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
Sayaka Kawashima, Akie Nakamura, Takanobu Inoue, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
Xue Yang, Osamu Sakamoto, Yoichi Matsubara, et al.
American Journal of Obstetrics and Gynecology
|
May 1, 2025
The fetal brain neurosonography in trisomy 21: the seagull sign and thinned subplate
Ritsuko K Pooh, Megumi Machida, Kohtaro Uenishi, et al.
Page
of 17
Search research articles
Search
Showing results (101-110 of 165) with videos related to
Sort By:
Page
of 17
Aging Cell
|
October 23, 2020
Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation
Harumi Fujita, Takashi Sasaki, Tatsuo Miyamoto, et al.
Journal of Cellular and Molecular Medicine
|
March 25, 2017
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty
Maki Fukami, Erina Suzuki, Yoko Izumi, et al.
Journal of the American Society of Nephrology : JASN
|
April 10, 2019
Germline-Derived Gain-of-Function Variants of Gs<i>α</i>-Coding <i>GNAS</i> Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis
Mami Miyado, Maki Fukami, Shuji Takada, et al.
Journal of Human Genetics
|
August 25, 2018
Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, et al.
Journal of Human Genetics
|
July 1, 2016
Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, et al.
Human Mutation
|
February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
Shigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Pediatric Research
|
April 17, 2008
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor
Kanako Kojima-ishii, Shigeo Kure, Akiko Ichinohe, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 8, 2018
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
Sayaka Kawashima, Akie Nakamura, Takanobu Inoue, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
Xue Yang, Osamu Sakamoto, Yoichi Matsubara, et al.
American Journal of Obstetrics and Gynecology
|
May 1, 2025
The fetal brain neurosonography in trisomy 21: the seagull sign and thinned subplate
Ritsuko K Pooh, Megumi Machida, Kohtaro Uenishi, et al.
Page
of 17