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Erina Suzuki

Showing results (21-30 of 48) with videos related to

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Clinical Epigenetics|July 1, 2021
Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangementsSayaka Kawashima, Atsushi Hattori, Erina Suzuki, et al.
Cytogenetic and Genome Research|January 19, 2017
Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic AlterationsErina Suzuki, Hirohito Shima, Machiko Toki, et al.
Cytogenetic and Genome Research|March 3, 2017
Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion SyndromeKoki Nagai, Hirohito Shima, Miki Kamimura, et al.
Cytogenetic and Genome Research|July 29, 2024
Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1Yasuko Ogiwara, Yoshitomo Kobori, Erina Suzuki, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 3, 2024
CHARGE syndrome in a child with a <i>CHD7</i> variant and a novel pathogenic <i>SOX2</i> variant: A case reportMiki Kamimura, Hirohito Shima, Erina Suzuki, et al.
Internal Medicine (Tokyo, Japan)|February 4, 2017
Pancreatic Fistula Extending into the Thigh Caused by the Rupture of an Intraductal Papillary Mucinous Adenoma of the PancreasYuki Shimizu, Hiroshi Imaizumi, Hiroshi Yamauchi, et al.
Hormone Research in Paediatrics|November 28, 2013
De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiencyErina Suzuki, Shuichi Yatsuga, Maki Igarashi, et al.
Endocrine Journal|June 30, 2017
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadismHirohito Shima, Akira Ishii, Yasunori Wada, et al.
Journal of the Endocrine Society|June 7, 2021
<i>SOX10</i> Mutation Screening for 117 Patients with Kallmann SyndromeHirohito Shima, Etsuro Tokuhiro, Shingo Okamoto, et al.
Plos One|July 18, 2013
Cryptic genomic rearrangements in three patients with 46,XY disorders of sex developmentMaki Igarashi, Vu Chi Dung, Erina Suzuki, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
Clinical Epigenetics|July 1, 2021
Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangementsSayaka Kawashima, Atsushi Hattori, Erina Suzuki, et al.
Cytogenetic and Genome Research|January 19, 2017
Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic AlterationsErina Suzuki, Hirohito Shima, Machiko Toki, et al.
Cytogenetic and Genome Research|March 3, 2017
Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion SyndromeKoki Nagai, Hirohito Shima, Miki Kamimura, et al.
Cytogenetic and Genome Research|July 29, 2024
Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1Yasuko Ogiwara, Yoshitomo Kobori, Erina Suzuki, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 3, 2024
CHARGE syndrome in a child with a <i>CHD7</i> variant and a novel pathogenic <i>SOX2</i> variant: A case reportMiki Kamimura, Hirohito Shima, Erina Suzuki, et al.
Internal Medicine (Tokyo, Japan)|February 4, 2017
Pancreatic Fistula Extending into the Thigh Caused by the Rupture of an Intraductal Papillary Mucinous Adenoma of the PancreasYuki Shimizu, Hiroshi Imaizumi, Hiroshi Yamauchi, et al.
Hormone Research in Paediatrics|November 28, 2013
De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiencyErina Suzuki, Shuichi Yatsuga, Maki Igarashi, et al.
Endocrine Journal|June 30, 2017
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadismHirohito Shima, Akira Ishii, Yasunori Wada, et al.
Journal of the Endocrine Society|June 7, 2021
<i>SOX10</i> Mutation Screening for 117 Patients with Kallmann SyndromeHirohito Shima, Etsuro Tokuhiro, Shingo Okamoto, et al.
Plos One|July 18, 2013
Cryptic genomic rearrangements in three patients with 46,XY disorders of sex developmentMaki Igarashi, Vu Chi Dung, Erina Suzuki, et al.
Pageof 5