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Hitomi Shimizu

Showing results (11-20 of 17) with videos related to

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Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 17, 2017
A case of sitosterolemia due to compound heterozygous mutations in <i>ABCG5</i>: clinical features and treatment outcomes obtained with colestimide and ezetimibeSahoko Ono, Junko Matsuda, Aki Saito, et al.
Journal of Human Genetics|February 24, 2019
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndromeHitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, et al.
Journal of Human Genetics|March 24, 2017
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniationSumito Dateki, Akiko Nakatomi, Satoshi Watanabe, et al.
European Journal of Medical Genetics|December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalitiesChisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Endocrine Journal|July 10, 2020
A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5Yujiro Nakano, Chikara Komiya, Hitomi Shimizu, et al.
The Journal of Cell Biology|May 14, 2017
UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific mannerTokiro Ishikawa, Takuya Toyama, Yuki Nakamura, et al.
Human Genome Variation|October 5, 2020
Compound heterozygous variants in the <i>ABCG8</i> gene in a Japanese girl with sitosterolemiaNobuhiro Hashimoto, Sumito Dateki, Eri Suzuki, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 17, 2017
A case of sitosterolemia due to compound heterozygous mutations in <i>ABCG5</i>: clinical features and treatment outcomes obtained with colestimide and ezetimibeSahoko Ono, Junko Matsuda, Aki Saito, et al.
Journal of Human Genetics|February 24, 2019
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndromeHitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, et al.
Journal of Human Genetics|March 24, 2017
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniationSumito Dateki, Akiko Nakatomi, Satoshi Watanabe, et al.
European Journal of Medical Genetics|December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalitiesChisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Endocrine Journal|July 10, 2020
A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5Yujiro Nakano, Chikara Komiya, Hitomi Shimizu, et al.
The Journal of Cell Biology|May 14, 2017
UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific mannerTokiro Ishikawa, Takuya Toyama, Yuki Nakamura, et al.
Human Genome Variation|October 5, 2020
Compound heterozygous variants in the <i>ABCG8</i> gene in a Japanese girl with sitosterolemiaNobuhiro Hashimoto, Sumito Dateki, Eri Suzuki, et al.
Pageof 2