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American Journal of Medical Genetics. Part A
|
December 21, 2018
SOFT syndrome in a patient from Chile
Ken 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 sequencing
Haruya Sakai, Shinichi Suzuki, Takeshi Mizuguchi, et al.
Journal of Human Genetics
|
March 18, 2006
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection
Haruka Hamanoue, Nobuko Umezu, Mika Okuda, et al.
Genomics
|
July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies
Sachiko 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 anomalies
Atsushi Fujita, Yuta Suenaga, Eri Takeshita, et al.
Journal of Human Genetics
|
April 8, 2025
Mosaic deletions detected by genome sequencing in two families
Naomi 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 features
Futoshi 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 encephalopathies
Kaoru 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 spectrum
Ken 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 density
Takeshi Mizuguchi, Itsuko Furuta, Yukio Watanabe, et al.
Page
of 19
Search research articles
Search
Showing results (51-60 of 185) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
December 21, 2018
SOFT syndrome in a patient from Chile
Ken 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 sequencing
Haruya Sakai, Shinichi Suzuki, Takeshi Mizuguchi, et al.
Journal of Human Genetics
|
March 18, 2006
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection
Haruka Hamanoue, Nobuko Umezu, Mika Okuda, et al.
Genomics
|
July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies
Sachiko 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 anomalies
Atsushi Fujita, Yuta Suenaga, Eri Takeshita, et al.
Journal of Human Genetics
|
April 8, 2025
Mosaic deletions detected by genome sequencing in two families
Naomi 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 features
Futoshi 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 encephalopathies
Kaoru 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 spectrum
Ken 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 density
Takeshi Mizuguchi, Itsuko Furuta, Yukio Watanabe, et al.
Page
of 19