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Aritoshi Iida

Showing results (41-50 of 106) with videos related to

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Neurobiology of Aging|March 10, 2012
Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in JapaneseAritoshi Iida, Naoya Hosono, Motoki Sano, et al.
American Journal of Human Genetics|June 18, 2004
Large-scale single-nucleotide polymorphism (SNP) and haplotype analyses, using dense SNP Maps, of 199 drug-related genes in 752 subjects: the analysis of the association between uncommon SNPs within haplotype blocks and the haplotypes constructed with haplotype-tagging SNPsNaoyuki Kamatani, Akihiro Sekine, Takuya Kitamoto, et al.
Journal of Human Genetics|November 25, 2016
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2Long Guo, Nursel H Elcioglu, Aritoshi Iida, et al.
Neuromuscular Disorders : NMD|October 17, 2024
Sequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorderAki Murayama, Utako Nagaoka, Keizo Sugaya, et al.
BMC Research Notes|February 9, 2018
Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case reportTakahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, et al.
Human Genome Variation|December 12, 2018
A novel intragenic deletion in <i>OPHN1</i> in a Japanese patient with Dandy-Walker malformationAritoshi Iida, Eri Takeshita, Shunichi Kosugi, et al.
American Journal of Medical Genetics. Part A|October 15, 2015
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification typeMaria Mansouri, Hülya Kayserili, Siham Chafai Elalaoui, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 20, 2021
SLC4A2 Deficiency Causes a New Type of OsteopetrosisJing-Yi Xue, Giedre Grigelioniene, Zheng Wang, et al.
Neuromuscular Disorders : NMD|July 21, 2020
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVESLuh Ari Indrawati, Aritoshi Iida, Yuzo Tanaka, et al.
Neuromuscular Disorders : NMD|December 3, 2021
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumorsTsuyoshi Matsumura, Kimiko Inoue, Keiko Toyooka, et al.
Pageof 11

Showing results (41-50 of 106) with videos related to

Sort By:
Pageof 11
Neurobiology of Aging|March 10, 2012
Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in JapaneseAritoshi Iida, Naoya Hosono, Motoki Sano, et al.
American Journal of Human Genetics|June 18, 2004
Large-scale single-nucleotide polymorphism (SNP) and haplotype analyses, using dense SNP Maps, of 199 drug-related genes in 752 subjects: the analysis of the association between uncommon SNPs within haplotype blocks and the haplotypes constructed with haplotype-tagging SNPsNaoyuki Kamatani, Akihiro Sekine, Takuya Kitamoto, et al.
Journal of Human Genetics|November 25, 2016
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2Long Guo, Nursel H Elcioglu, Aritoshi Iida, et al.
Neuromuscular Disorders : NMD|October 17, 2024
Sequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorderAki Murayama, Utako Nagaoka, Keizo Sugaya, et al.
BMC Research Notes|February 9, 2018
Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case reportTakahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, et al.
Human Genome Variation|December 12, 2018
A novel intragenic deletion in <i>OPHN1</i> in a Japanese patient with Dandy-Walker malformationAritoshi Iida, Eri Takeshita, Shunichi Kosugi, et al.
American Journal of Medical Genetics. Part A|October 15, 2015
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification typeMaria Mansouri, Hülya Kayserili, Siham Chafai Elalaoui, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 20, 2021
SLC4A2 Deficiency Causes a New Type of OsteopetrosisJing-Yi Xue, Giedre Grigelioniene, Zheng Wang, et al.
Neuromuscular Disorders : NMD|July 21, 2020
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVESLuh Ari Indrawati, Aritoshi Iida, Yuzo Tanaka, et al.
Neuromuscular Disorders : NMD|December 3, 2021
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumorsTsuyoshi Matsumura, Kimiko Inoue, Keiko Toyooka, et al.
Pageof 11