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Eri Imagawa

Showing results (1-10 of 47) with videos related to

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Clinical Calcium|March 26, 2016
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system]Eri Imagawa, Noriko Miyake, Naomichi Matsumoto
Molecular Genetics and Metabolism Reports|July 9, 2020
A novel Romani microdeletion variant in the promoter sequence of <i>ASS1</i> causes citrullinemia type IEri Imagawa, George A Diaz, Kimihiko Oishi
[Hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science|April 20, 2005
[In silico and systematic molecular evolutionary analysis of human SIAH1b inactivation]Masahiro Yano, Eri Imagawa, Mitsuhiro Tada, et al.
Human Genome Variation|June 12, 2024
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese populationShuhei Sako, Kimihiko Oishi, Hiroyuki Ida, et al.
Journal of Human Genetics|September 10, 2020
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intakeKimihiko Oishi, Casey Siegel, Emalyn E Cork, et al.
Biomolecular NMR Assignments|March 7, 2024
<sup>1</sup>H, <sup>13</sup>C and <sup>15</sup>N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POU<sub>S</sub> and POU<sub>HD</sub>Sayaka Hokazono, Eri Imagawa, Daishi Hirano, et al.
Clinical Genetics|August 20, 2020
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic featuresEri Imagawa, Tsuyoshi Konuma, Emalyn E Cork, et al.
Journal of Human Genetics|June 2, 2023
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10Eri Imagawa, Latisha Moreta, Vinod K Misra, et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology|February 21, 2008
[A case of myeloid sarcoma diagnosed by FISH]Eri Imagawa, Kazuyuki Matsuda, Eiko Hidaka, et al.
Brain & Development|October 22, 2021
Polymicrogyria in a child with KCNMA1-related channelopathyDenis Graber, Eri Imagawa, Noriko Miyake, et al.
Pageof 5

Showing results (1-10 of 47) with videos related to

Sort By:
Pageof 5
Clinical Calcium|March 26, 2016
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system]Eri Imagawa, Noriko Miyake, Naomichi Matsumoto
Molecular Genetics and Metabolism Reports|July 9, 2020
A novel Romani microdeletion variant in the promoter sequence of <i>ASS1</i> causes citrullinemia type IEri Imagawa, George A Diaz, Kimihiko Oishi
[Hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science|April 20, 2005
[In silico and systematic molecular evolutionary analysis of human SIAH1b inactivation]Masahiro Yano, Eri Imagawa, Mitsuhiro Tada, et al.
Human Genome Variation|June 12, 2024
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese populationShuhei Sako, Kimihiko Oishi, Hiroyuki Ida, et al.
Journal of Human Genetics|September 10, 2020
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intakeKimihiko Oishi, Casey Siegel, Emalyn E Cork, et al.
Biomolecular NMR Assignments|March 7, 2024
<sup>1</sup>H, <sup>13</sup>C and <sup>15</sup>N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POU<sub>S</sub> and POU<sub>HD</sub>Sayaka Hokazono, Eri Imagawa, Daishi Hirano, et al.
Clinical Genetics|August 20, 2020
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic featuresEri Imagawa, Tsuyoshi Konuma, Emalyn E Cork, et al.
Journal of Human Genetics|June 2, 2023
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10Eri Imagawa, Latisha Moreta, Vinod K Misra, et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology|February 21, 2008
[A case of myeloid sarcoma diagnosed by FISH]Eri Imagawa, Kazuyuki Matsuda, Eiko Hidaka, et al.
Brain & Development|October 22, 2021
Polymicrogyria in a child with KCNMA1-related channelopathyDenis Graber, Eri Imagawa, Noriko Miyake, et al.
Pageof 5