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Nobuhiko Okamoto

Showing results (11-20 of 340) with videos related to

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JIMD Reports|April 7, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in JapanNobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada
Congenital Anomalies|April 6, 2017
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defectsKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Journal of Human Genetics|July 2, 2025
Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in JapanNobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada
European Journal of Medical Genetics|May 24, 2015
Eight patients with Williams syndrome and craniosynostosisKimiko Ueda, Junji Yamada, Osamu Takemoto, et al.
International Journal of Urology : Official Journal of the Japanese Urological Association|January 18, 2006
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndromeFumi Matsumoto, Akira Tohda, Kenji Shimada, et al.
Journal of Human Genetics|August 26, 2011
Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysisKeiko Shimojima, Nobuhiko Okamoto, Tetsuya Inazu, et al.
Brain & Development|November 29, 2018
A novel mutation in the GATAD2B gene associated with severe intellectual disabilityKimiko Ueda, Kumiko Yanagi, Tadashi Kaname, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegenerationShodo Hirano, Yasuhiro Suzuki, Tae Ikeda, et al.
American Journal of Medical Genetics. Part A|October 21, 2024
Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating VariantEriko Nishi, Kumiko Yanagi, Nobuhiko Okamoto, et al.
American Journal of Medical Genetics. Part A|February 2, 2026
A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 MicrodeletionNobuhiko Okamoto, Eriko Nishi, Yuiko Hasegawa, et al.
Pageof 34

Showing results (11-20 of 340) with videos related to

Sort By:
Pageof 34
JIMD Reports|April 7, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in JapanNobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada
Congenital Anomalies|April 6, 2017
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defectsKeiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Journal of Human Genetics|July 2, 2025
Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in JapanNobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada
European Journal of Medical Genetics|May 24, 2015
Eight patients with Williams syndrome and craniosynostosisKimiko Ueda, Junji Yamada, Osamu Takemoto, et al.
International Journal of Urology : Official Journal of the Japanese Urological Association|January 18, 2006
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndromeFumi Matsumoto, Akira Tohda, Kenji Shimada, et al.
Journal of Human Genetics|August 26, 2011
Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysisKeiko Shimojima, Nobuhiko Okamoto, Tetsuya Inazu, et al.
Brain & Development|November 29, 2018
A novel mutation in the GATAD2B gene associated with severe intellectual disabilityKimiko Ueda, Kumiko Yanagi, Tadashi Kaname, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegenerationShodo Hirano, Yasuhiro Suzuki, Tae Ikeda, et al.
American Journal of Medical Genetics. Part A|October 21, 2024
Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating VariantEriko Nishi, Kumiko Yanagi, Nobuhiko Okamoto, et al.
American Journal of Medical Genetics. Part A|February 2, 2026
A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 MicrodeletionNobuhiko Okamoto, Eriko Nishi, Yuiko Hasegawa, et al.
Pageof 34