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Rika Kosaki

Showing results (1-10 of 105) with videos related to

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Nihon Rinsho. Japanese Journal of Clinical Medicine|December 20, 2018
Rubinstein-Taybi syndromeRika Kosaki
Nihon Rinsho. Japanese Journal of Clinical Medicine|March 19, 2005
[Genetic medicine in Japan]Torayuki Okuyama, Rika Kosaki, Yasuyuki Fukuhara
American Journal of Medical Genetics. Part A|March 17, 2009
Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same familyRika Kosaki, Ohsuke Migita, Takao Takahashi, et al.
American Journal of Medical Genetics. Part A|December 20, 2016
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutationRika Kosaki, Hiroshi Terashima, Masaya Kubota, et al.
American Journal of Medical Genetics. Part A|May 9, 2018
Timothy syndrome-like condition with syndactyly but without prolongation of the QT intervalRika Kosaki, Hiroshi Ono, Hiroshi Terashima, et al.
American Journal of Medical Genetics. Part A|December 6, 2017
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptomsRika Kosaki, Reiko Horikawa, Eriko Fujii, et al.
Brain & Development|January 7, 2020
Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacySato Suzuki-Muromoto, Rika Kosaki, Kenjiro Kosaki, et al.
Ophthalmic Genetics|March 23, 2002
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelidKenjiro Kosaki, Tsutomu Ogata, Rika Kosaki, et al.
American Journal of Medical Genetics. Part A|September 20, 2015
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delayToshiki Takenouchi, Rika Kosaki, Takahiro Niizuma, et al.
The British Journal of Oral & Maxillofacial Surgery|May 18, 2005
Taste after reduction of the tongue in Beckwith-Wiedemann syndromeKensuke Matsune, Katsumi Miyoshi, Rika Kosaki, et al.
Pageof 11

Showing results (1-10 of 105) with videos related to

Sort By:
Pageof 11
Nihon Rinsho. Japanese Journal of Clinical Medicine|December 20, 2018
Rubinstein-Taybi syndromeRika Kosaki
Nihon Rinsho. Japanese Journal of Clinical Medicine|March 19, 2005
[Genetic medicine in Japan]Torayuki Okuyama, Rika Kosaki, Yasuyuki Fukuhara
American Journal of Medical Genetics. Part A|March 17, 2009
Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same familyRika Kosaki, Ohsuke Migita, Takao Takahashi, et al.
American Journal of Medical Genetics. Part A|December 20, 2016
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutationRika Kosaki, Hiroshi Terashima, Masaya Kubota, et al.
American Journal of Medical Genetics. Part A|May 9, 2018
Timothy syndrome-like condition with syndactyly but without prolongation of the QT intervalRika Kosaki, Hiroshi Ono, Hiroshi Terashima, et al.
American Journal of Medical Genetics. Part A|December 6, 2017
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptomsRika Kosaki, Reiko Horikawa, Eriko Fujii, et al.
Brain & Development|January 7, 2020
Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacySato Suzuki-Muromoto, Rika Kosaki, Kenjiro Kosaki, et al.
Ophthalmic Genetics|March 23, 2002
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelidKenjiro Kosaki, Tsutomu Ogata, Rika Kosaki, et al.
American Journal of Medical Genetics. Part A|September 20, 2015
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delayToshiki Takenouchi, Rika Kosaki, Takahiro Niizuma, et al.
The British Journal of Oral & Maxillofacial Surgery|May 18, 2005
Taste after reduction of the tongue in Beckwith-Wiedemann syndromeKensuke Matsune, Katsumi Miyoshi, Rika Kosaki, et al.
Pageof 11