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Takeshi Mizuguchi

Showing results (51-60 of 185) with videos related to

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American Journal of Medical Genetics. Part A|December 21, 2018
SOFT syndrome in a patient from ChileKen Saida, Sebastian Silva, Benjamin Solar, et al.
Human Genetics|October 18, 2011
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencingHaruya Sakai, Shinichi Suzuki, Takeshi Mizuguchi, et al.
Journal of Human Genetics|March 18, 2006
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injectionHaruka Hamanoue, Nobuko Umezu, Mika Okuda, et al.
Genomics|July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologiesSachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, et al.
Journal of Human Genetics|January 14, 2025
Triple mosaic variants of PURA in a patient with multiple congenital anomaliesAtsushi Fujita, Yuta Suenaga, Eri Takeshita, et al.
Journal of Human Genetics|April 8, 2025
Mosaic deletions detected by genome sequencing in two familiesNaomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.
Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.
Epilepsia Open|February 5, 2023
Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathiesKaoru Yamamoto, Shimpei Baba, Takashi Saito, et al.
Journal of Medical Genetics|January 16, 2024
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrumKen Higashimoto, Feifei Sun, Eri Imagawa, et al.
Journal of Human Genetics|January 17, 2004
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral densityTakeshi Mizuguchi, Itsuko Furuta, Yukio Watanabe, et al.
Pageof 19

Showing results (51-60 of 185) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|December 21, 2018
SOFT syndrome in a patient from ChileKen Saida, Sebastian Silva, Benjamin Solar, et al.
Human Genetics|October 18, 2011
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencingHaruya Sakai, Shinichi Suzuki, Takeshi Mizuguchi, et al.
Journal of Human Genetics|March 18, 2006
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injectionHaruka Hamanoue, Nobuko Umezu, Mika Okuda, et al.
Genomics|July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologiesSachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, et al.
Journal of Human Genetics|January 14, 2025
Triple mosaic variants of PURA in a patient with multiple congenital anomaliesAtsushi Fujita, Yuta Suenaga, Eri Takeshita, et al.
Journal of Human Genetics|April 8, 2025
Mosaic deletions detected by genome sequencing in two familiesNaomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.
Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.
Epilepsia Open|February 5, 2023
Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathiesKaoru Yamamoto, Shimpei Baba, Takashi Saito, et al.
Journal of Medical Genetics|January 16, 2024
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrumKen Higashimoto, Feifei Sun, Eri Imagawa, et al.
Journal of Human Genetics|January 17, 2004
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral densityTakeshi Mizuguchi, Itsuko Furuta, Yukio Watanabe, et al.
Pageof 19