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Aritoshi Iida

Showing results (71-80 of 106) with videos related to

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Human Mutation|January 6, 2017
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital ScoliosisKazuki Takeda, Ikuyo Kou, Noriaki Kawakami, et al.
Journal of Medical Genetics|July 14, 2012
PAPSS2 mutations cause autosomal recessive brachyolmiaNoriko Miyake, Nursel H Elcioglu, Aritoshi Iida, et al.
Neurology|July 11, 2020
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical featuresYoshihiko Saito, Atsuko Nishikawa, Aritoshi Iida, et al.
Human Molecular Genetics|October 14, 2005
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's diseaseKeiko Yamazaki, Dermot McGovern, Jiannis Ragoussis, et al.
Journal of Medical Genetics|April 9, 2016
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneityAritoshi Iida, Weirong Xing, Martine K F Docx, et al.
Scientific Reports|December 16, 2022
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathyWakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, et al.
Plos One|November 7, 2015
Identification of HOXD4 Mutations in Spinal Extradural Arachnoid CystYoji Ogura, Noriko Miyake, Ikuyo Kou, et al.
Acta Neuropathologica Communications|November 26, 2020
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestationsMasashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, et al.
Annals of Neurology|June 4, 2019
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiencyMichio Inoue, Shumpei Uchino, Aritoshi Iida, et al.
Journal of Human Genetics|January 11, 2007
A functional SNP in ITIH3 is associated with susceptibility to myocardial infarctionYusuke Ebana, Kouichi Ozaki, Katsumi Inoue, et al.
Pageof 11

Showing results (71-80 of 106) with videos related to

Sort By:
Pageof 11
Human Mutation|January 6, 2017
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital ScoliosisKazuki Takeda, Ikuyo Kou, Noriaki Kawakami, et al.
Journal of Medical Genetics|July 14, 2012
PAPSS2 mutations cause autosomal recessive brachyolmiaNoriko Miyake, Nursel H Elcioglu, Aritoshi Iida, et al.
Neurology|July 11, 2020
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical featuresYoshihiko Saito, Atsuko Nishikawa, Aritoshi Iida, et al.
Human Molecular Genetics|October 14, 2005
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's diseaseKeiko Yamazaki, Dermot McGovern, Jiannis Ragoussis, et al.
Journal of Medical Genetics|April 9, 2016
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneityAritoshi Iida, Weirong Xing, Martine K F Docx, et al.
Scientific Reports|December 16, 2022
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathyWakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, et al.
Plos One|November 7, 2015
Identification of HOXD4 Mutations in Spinal Extradural Arachnoid CystYoji Ogura, Noriko Miyake, Ikuyo Kou, et al.
Acta Neuropathologica Communications|November 26, 2020
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestationsMasashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, et al.
Annals of Neurology|June 4, 2019
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiencyMichio Inoue, Shumpei Uchino, Aritoshi Iida, et al.
Journal of Human Genetics|January 11, 2007
A functional SNP in ITIH3 is associated with susceptibility to myocardial infarctionYusuke Ebana, Kouichi Ozaki, Katsumi Inoue, et al.
Pageof 11